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A case of T-cell acute lymphoblastic leukemia after treatment of acute promyelocytic leukemia

Bee PC, Gan GG, Sangkar JV, Teh A, Goh KY

Int J Hematol, 2004 May;79(4):358-60.
PMID: 15218965

We diagnosed T-cell acute lymphoblastic leukemia (T-ALL) with multiple cytogenetic abnormalities in a 17-year-old girl a year after she had received a diagnosis of acute promyelocytic leukemia (APML). After the diagnosis of APML in June 2001, the patient was treated with idarubicin and all-trans-retinoic acid. In September 1999, her younger sister also received a diagnosis of APML and to date has remained well. T-ALL after remission of APML is very rare, and only 1 such case has been reported. Possible causes include therapy-related reasons, genetic susceptibility to leukemia, and environmental exposure.

Matched MeSH terms: Siblings
Fulltext A case of clinical vampirism in asia

Phang, C.K., Kayatri, S., Ang, J.K.

Malaysian Journal of Medicine and Health Sciences, 2013;9(1):87-89.
MyJurnal

Clinical vampirism in psychiatric practice is very rare and usually associated with schizophrenia, antisocial personality disorder or paraphilia. An Asian case of clinical vampirism is described. It is about a 24-year-old Malay female, paramedic student, who craved for blood since childhood. She injured her sister and herself so that she could access and drink blood. There was no associated psychosis or medical problems. The craving for blood may represent her underlying craving for parental love and attention.

Matched MeSH terms: Siblings
A case series of α-thalassemia intermedia due to compound heterozygosity for Hb Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] with other α-thalassemias in Malay families

Alauddin H, Jaapar NA, Azma RZ, Ithnin A, Razak NF, Loh CK, et al.

Hemoglobin, 2014;38(4):277-81.
PMID: 24829075 DOI: 10.3109/03630269.2014.916720

Hb Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] is a rare hemoglobin (Hb) variant due to a mutation at codon 59 of the α2- or α1-globin gene resulting in a glycine to aspartic acid substitution. Two siblings with a unique coinheritance of Hb Adana and Hb Constant Spring (Hb CS, α142, Term→Gln, TAA>CAA; HBA2: c.427 T>C) (α(codon 59)α/α(CS)α), were compared phenotypically with another two siblings carrying the Hb Adana mutation and a 3.7 kb deletion (α(codon 59)α/-α(3.7)). Although they all had α-thalassemia intermedia (α-TI), the former were clinically more severe than the latter. The first pair of siblings presented at a much younger age than the second pair and showed lower Hb levels and significant extramedullay hemopoiesis. Another case of a hydropic fetus as a result of Hb H/Hb Adana is also described. Their clinical phenotypes and hematological parameters are all presented for comparison.

Matched MeSH terms: Siblings
Fulltext A family study of HbS in a Malay family by molecular analysis

Hafiza A, Noor HH, Noor FA, Azlin I, Ainoon O

Malays J Pathol, 2010 Dec;32(2):137-41.
PMID: 21329186 MyJurnal

Sickle cell disease (SCD) is an inherited red cell disorder, characterized by the tendency of haemoglobin S or sickle haemoglobin to polymerize and assume a characteristic sickle shape. Molecular analysis has been the mainstay of detection method when confirmation is required. Previously a polymerase chain reaction (PCR)-based restriction enzyme analysis was used for this purpose. A simple bidirectional allele-specific amplification, recently described by Waterfall in 2001 was used to detect the GAG --> GTG mutation on codon 6 of the beta globin gene. Two sets of primers for the mutant and the wild type alleles were used in a single PCR reaction to amplify the regions of interest. The resultant PCR products will produce two fragments at 517 and 267 base pair (bp) respectively. This report highlights the investigations for SCD in the family of a 16-year old girl with recurrent painful crisis affecting the lower limbs whereby the family members are asymptomatic for the disease. Her haemoglobin electrophoresis at an alkaline pH showed dense bands at the HbS and HbF regions, while her father and two sisters had bands at HbS, HbF and HbA. The PCR analysis showed that she was homozygous for the mutation by the presence of only one band at 267 bp fragment, while the father and her sisters were heterozygotes, with the presence of two bands at 267 as well as 517 bp fragments. DNA sequencing of the sample confirmed the mutation. In conclusion, this case report highlighted the simple and cheap yet practical method for molecular confirmation of the presence of HbS gene in subjects with homozygous or heterozygous state of the condition.

Matched MeSH terms: Siblings
A morphometric approach to morphology analysis of palatal rugae in sibling groups

Tey SN, Syed Mohamed AMF, Marizan Nor M

J Forensic Sci, 2024 Jan;69(1):189-198.
PMID: 37706423 DOI: 10.1111/1556-4029.15380

Recent advances in imaging technologies, such as intra-oral surface scanning, have rapidly generated large datasets of high-resolution three-dimensional (3D) sample reconstructions. These datasets contain a wealth of phenotypic information that can provide an understanding of morphological variation and evolution. The geometric morphometric method (GMM) with landmarks and the development of sliding and surface semilandmark techniques has greatly enhanced the quantification of shape. This study aimed to determine whether there are significant differences in 3D palatal rugae shape between siblings. Digital casts representing 25 pairs of full siblings from each group, male-male (MM), female-female (FF), and female-male (FM), were digitized and transferred to a GM system. The palatal rugae were determined, quantified, and visualized using GMM computational tools with MorphoJ software (University of Manchester). Principal component analysis (PCA) and canonical variates analysis (CVA) were employed to analyze palatal rugae shape variability and distinguish between sibling groups based on shape. Additionally, regression analysis examined the potential impact of shape on palatal rugae. The study revealed that the palatal rugae shape covered the first nine of the PCA by 71.3%. In addition, the size of the palatal rugae has a negligible impact on its shape. Whilst palatal rugae are known for their individuality, it is noteworthy that three palatal rugae (right first, right second, and left third) can differentiate sibling groups, which may be attributed to genetics. Therefore, it is suggested that palatal rugae morphology can serve as forensic identification for siblings.

Matched MeSH terms: Siblings*
Fulltext A rare X-linked inherited mucocutaneous syndrome in two siblings

Chong LA, Ariffin H

Med J Malaysia, 2009 Dec;64(4):327-9.
PMID: 20954562 MyJurnal

We report on an 11 year-old boy with dyskeratosis congenita who presented with dystrophic nails, dysphagia, hyperpigmentation and oral leukoplakia. He had a brother who died 14 years earlier with similar presenting symptoms and aplastic anaemia. Genetic studies of our patient demonstrated the presence of a DKC1 mutation and confirmed our diagnosis. Further genetic screening revealed that his mother and one of his four sisters are heterozygous for the same mutation.

Matched MeSH terms: Siblings
Fulltext A tale of two boys: case report on nonconsanguineous siblings with cerebral palsy

Leelavathi, M., Lim, J.L., Ahmad, S.

Medicine & Health, 2014;9(1):74-79.
MyJurnal

Cerebral palsy is a common cause of childhood disability. It has a great impact on parents and caregivers, especially when it reoccurs in the same family. Although familial cerebral palsy is relatively uncommon, cases have been reported among children from consanguineous, non-consanguineous marriages and multiple pregnancies suggesting a possible complex genetic mode of inheritance. Physicians need to be aware of the possibility of familial cerebral palsy for early detection and counseling. We describe a rare case of two male siblings from a non-consanguineous marriage affected by cerebral palsy.

Matched MeSH terms: Siblings
Adolescents as perpetrators of aggression within the family

Kuay HS, Lee S, Centifanti LC, Parnis AC, Mrozik JH, Tiffin PA

Int J Law Psychiatry, 2016 Jul-Aug;47:60-7.
PMID: 27016774 DOI: 10.1016/j.ijlp.2016.02.035

Although family violence perpetrated by juveniles has been acknowledged as a potentially serious form of violence for over 30years, scientific studies have been limited to examining the incidence and form of home violence. The present study examined the prevalence of family aggression as perpetrated by youths; we examined groups drawn from clinic-referred and forensic samples. Two audits of case files were conducted to systematically document aggression perpetrated by referred youths toward their family members. The purpose of the first audit was fourfold: i) to identify the incidence of the perpetration of family aggression among clinical and forensic samples; ii) to identify whether there were any reports of weapon use during aggressive episodes; iii) to identify the target of family aggression (parents or siblings); and iv) to identify the form of aggression perpetrated (verbal or physical). The second audit aimed to replicate the findings and to show that the results were not due to differences in multiple deprivation indices, clinical diagnosis of disruptive behavior disorders, and placement into alternative care. A sampling strategy was designed to audit the case notes of 25 recent forensic Child and Adolescent Mental Health Service (CAMHS) cases and 25 demographically similar clinic-referred CAMHS cases in the first audit; and 35 forensic cases and 35 demographically similar clinic-referred CAMHS cases in the second audit. Using ordinal chi-square, the forensic sample (audit 1=64%; audit 2=82.9%) had greater instances of family violence than the clinical sample (audit 1=32%; audit 2=28.6%). They were more likely to use a weapon (audit 1=69%; audit 2=65.5%) compared to the clinical sample (audit 1 and 2=0%). Examining only the aggressive groups, there was more perpetration of aggression toward parents (audit 1, forensic=92%, clinical=75%; audit 2, forensic=55.17%, clinical=40%) than toward siblings (audit 1, forensic=43%, clinical=50%; audit 2, forensic=27.58%, clinical=30%). Based on these findings, we would urge professionals who work within the child mental health, particularly the forensic area, to systematically collect reports of aggression perpetrated toward family members.

Study conducted in England

Matched MeSH terms: Siblings*
Altered body composition, sarcopenia, frailty, and their clinico-biological correlates, in Parkinson's disease

Tan AH, Hew YC, Lim SY, Ramli NM, Kamaruzzaman SB, Tan MP, et al.

Parkinsonism Relat Disord, 2018 11;56:58-64.
PMID: 29914840 DOI: 10.1016/j.parkreldis.2018.06.020

INTRODUCTION: Low body weight in Parkinson's disease (PD) is poorly understood despite the associated risks of malnutrition, fractures, and death. Sarcopenia (loss of muscle bulk and strength) and frailty are geriatric syndromes that are likewise associated with adverse health outcomes, yet have received scant attention in PD. We studied body composition, sarcopenia, frailty, and their clinico-biological correlates in PD.
METHODS: 93 patients and 78 spousal/sibling controls underwent comprehensive assessment of diet, clinical status, muscle strength/performance, frailty, body composition (using dual-energy X-ray absorptiometry), and serum levels of neurogastrointestinal hormones and inflammatory markers.
RESULTS: PD patients were older than controls (66.0 ± 8.5 vs. 62.4 ± 8.4years, P = 0.003). Mean body mass index (24.0 ± 0.4 vs. 25.6 ± 0.5kg/m2, Padjusted = 0.016), fat mass index (7.4 ± 0.3 vs. 9.0 ± 0.3kg/m2, Padjusted<0.001), and whole-body fat percentage (30.7 ± 0.8 vs. 35.7 ± 0.9%, Padjusted<0.001) were lower in patients, even after controlling for age and gender. There were no between-group differences in skeletal muscle mass index and whole-body bone mineral density. Body composition parameters did not correlate with disease duration or motor severity. Reduced whole-body fat percentage was associated with higher risk of motor response complications as well as higher levels of insulin-growth factor-1 and inflammatory markers. PD patients had a higher prevalence of sarcopenia (17.2% vs. 10.3%, Padjusted = 0.340) and frailty (69.4% vs. 24.2%, Padjusted = 0.010). Older age and worse PD motor severity were predictors of frailty in PD.
CONCLUSIONS: We found reduced body fat with relatively preserved skeletal muscle mass, and a high prevalence of frailty, in PD. Further studies are needed to understand the patho-mechanisms underlying these alterations.

Matched MeSH terms: Siblings
Fulltext An evaluation of health centers and hospital efficiency in Kampala capital city authority Uganda; using Pabon Lasso technique

Nabukeera, M., Boerhannoeddin, A., Raja Noriza, R.A.

JUMMEC, 2015;18(1):1-6.
MyJurnal

The Pabon Lasso Model is one of the most important and suitable techniques applied in evaluating the performance of hospitals. The visual representation standardizes the comparative accomplishments of hospitals which information is used by planners in effort to improve productivity of the health care system by use of three pointers namely: (i) Average Length of Stay (ALS); (ii) Bed Occupancy Rate (BOR); (iii) Bed Turnover (BTO). The purpose of this study is to evaluate performance of wards in health centers affiliated to Kampala Capital City Authority (KCCA) and Ministry of Health (MOH) during the financial year 2012-2013 constructed on Pabon Lasso Model. Data for the nine health centers and two referral hospitals was taken by the nursing sisters who were in charge. To ensure accuracy, a weekly standard report was submitted to head office and the data included: a list of wards, number of beds, admissions, deaths, discharges and inpatient days. For all government health centers and hospitals, overall, the average indicators ALS=3.63 days, BTO= 74.0 times per year and BOR=49.3% were obtained. Based on the Pabon Lasso graph, two wards are in Zone 3, two wards in Zone 4, one ward in Zone 2 and five wards in Zone 1. The performance of health centers and hospitals in Kampala were somehow poor. This represented unacceptable levels of technical deficiency.

Matched MeSH terms: Siblings
Bed sharing among mother-infant pairs in Klang district, Peninsular Malaysia and its relationship to breast-feeding

Tan KL

J Dev Behav Pediatr, 2009 Oct;30(5):420-5.
PMID: 19827222 DOI: 10.1097/DBP.0b013e3181ba083a

OBJECTIVE: The aim of the study was to determine the prevalence of mother-infant bed sharing in Klang district, Peninsular Malaysia and to identify factors associated with bed sharing.

METHOD: This was a cross-sectional study involving 682 mother-infant pairs with infants up to 6 months attending government clinics in Klang district, Peninsular Malaysia. Data were collected by face-to-face interview using a pretested structured questionnaire for a 4-month period in 2006. Data regarding maternal, paternal, obstetric, infant, occupancy, breast-feeding characteristics, and bed-sharing practice were collected. Data on bed sharing were based on practice in the past 1-month period. Bed sharing was defined as an infant sharing a bed with mother, and infant must be within arms reach from the mother, whereas a bed was defined as either a sleeping mattress placed on a bed frame or placed on the floor. The prevalence of bed sharing was estimated. Relationship and magnitude of association between independent factors and bed sharing were examined using odds ratio and 95% confidence interval. Logistic regression analysis was used to control for confounding factors.

RESULTS: The prevalence of bed sharing among mothers with infants aged between 1 and 6 months was 73.5% (95% confidence interval: 70.0-76.7). In multivariate analysis, urban/rural differences, mothers' ethnicity, occupation, family income, husbands' support on bed sharing, number of children younger than 12 years staying in the house, and breast-feeding were associated with bed sharing.

CONCLUSIONS: These factors need to be considered in analyzing the overall risks and benefits of bed sharing, paying attention to breastfeeding practices.

Matched MeSH terms: Siblings
Fulltext Biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency

Ngu LH, Zabedah MY, Shanti B, Teh SH

Malays J Pathol, 2008 Dec;30(2):109-14.
PMID: 19291920 MyJurnal

We report the biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency. Organic aciduria typical of this rare inborn error metabolism was found when the elder sibling presented with an episode of severe ketoacidosis at 20 months of age, which consisted of excessive excretion of ketones, tiglylglycine, 2-methyl-3-hydroxybutyrate, and 2-methylacetoacetate. Blood acylcarnitiness profile showed elevation of C5OH-carnitine, which represents 2-methyl-3-hydroxybutyrylcarnitine. A similar biochemical profile was identified in the younger sibling during screening although he had only mild clinical symptoms. Both patients reported a favourable outcome on follow-up.

Matched MeSH terms: Siblings
Bone loss with antiepileptic drug therapy: a twin and sibling study

Shiek Ahmad B, Petty SJ, Gorelik A, O'Brien TJ, Hill KD, Christie JJ, et al.

Osteoporos Int, 2017 Sep;28(9):2591-2600.
PMID: 28589417 DOI: 10.1007/s00198-017-4098-9

Changes in areal bone mineral density (aBMD) and other predictors of bone loss were evaluated in 48 same-sex twin/age-matched sibling pairs discordant for antiepileptic drug (AED) use. AED users had reduced BMD at the hip regions. Prolonged AED users had greater aBMD loss, predicting a higher risk of bone fragility.
INTRODUCTION: To investigate the longitudinal associations of bone mineral measures with antiepileptic drug (AED) use, including enzyme-inducing (EIAED) and non-enzyme-inducing (NEIAED) types, and other predictors of bone loss in a study of 48 same-sex twin/age-matched sibling pairs (40 female, 8 male) discordant for AED use.
METHODS: Using dual-energy X-ray absorptiometry (DXA), areal bone mineral density (aBMD) and content (BMC) at the hip regions, forearm, lumbar spine, and whole body were measured twice, at least 2 years apart. The mean within-pair difference (MWPD), MWPD%, and mean annual rate of aBMD change were adjusted for age, weight, and height. Predictors of bone loss were evaluated.
RESULTS: AED users, compared to non-users, at baseline and follow-up, respectively, had reduced aBMD at the total hip (MWPD% 3.8, 4.4%), femoral neck (4.7, 4.5%), and trochanter regions (4.1, 4.6%) (p 0.05) regions did not differ within pairs. Nevertheless, EIAED users had greater aBMD loss than non-users (n = 20 pairs) at the total hip (1.7 vs. 0.3%, p = 0.013) and whole body regions (0.7% loss vs. 0.1% BMD gain, p = 0.019), which was not found in NEIAED-discordant pairs (n = 16). AED use >20 years predicted higher aBMD loss at the forearm (p = 0.028), whole body (p = 0.010), and whole body BMC (p = 0.031).
CONCLUSIONS: AED users had reduced aBMD at the hip regions. Prolonged users and EIAED users had greater aBMD loss, predicting a higher risk of bone fragility. Further prospective studies of AED effects on bone microarchitecture are needed.

Matched MeSH terms: Siblings
Fulltext Challenge and support for breastfeeding in highly motivated Malaysian mothers

Nazatul, S.B., Ruby, H.

JUMMEC, 2009;12(2):70-73.
MyJurnal

The exclusive breastfeeding rate in Malaysia is very low. However in recent years the awareness of breastfeeding among mothers has increased. A preliminary qualitative research was carried out on these motivated mothers. The objective of this study was to understand the challenges encountered by breastfeeding mothers and to explore the support and motivation received by them. Information from the motivated mothers was obtained from focus group discussion. Some obstacles faced by the mothers were lack of knowledge on breastfeeding and lack of support from health professionals, parents and siblings. Facilities to express breast milk while at work were not readily available. The main motivation to breastfeed came from the mother herself and support from the husband. A holistic approach must be used to help mothers to continue breastfeeding. This includes breastfeeding promotion and education, setting up more Baby Friendly Hospitals, availability of breastfeeding support groups and provision of enough breastfeeding facilities at work and public places.

Matched MeSH terms: Siblings
Changes in balance function with chronic antiepileptic drug therapy: A twin and sibling study

Shiek Ahmad B, Wark JD, Petty SJ, O'Brien TJ, Gorelik A, Sambrook PN, et al.

Epilepsia, 2015 Nov;56(11):1714-22.
PMID: 26513212 DOI: 10.1111/epi.13136

To investigate cross-sectional and longitudinal differences in static and dynamic standing balance measures and lower limb muscle strength in patients who are treated chronically with antiepileptic drugs (AEDs).

Matched MeSH terms: Siblings*
Fulltext Childhood brain injury: a review

Chee, Piau Wong, Ee, Lin Tay

Neurology Asia, 2015;20(2):105-115.
MyJurnal

Childhood brain injury is an important and complicated public health issue worldwide. Extensive work has been done in this field. This review highlights issues that are frequently misinterpreted or overlooked in the management of childhood brain injury. The incidence of traumatic brain injury is higher than non-traumatic brain injury. However it is frequently over-reported due to various confounding factors. In ascertaining the severity of injury, assessment of brainstem functions is important and should be included in routine clinical assessment. Most rehabilitative efforts are usually aimed at improving the physical outcome. However, non-physical sequelae are also common and may be more disabling with significant impact on the learning and functioning of the child. These areas, which include depression, cognitive functioning and health-related quality of life of children, should not be overlooked in the management of childhood brain injury. In addition to caregiver’s stress, family dynamic and siblings’ well-being also play a crucial role in the recovery process of the child. By highlighting the frequently missed issues in the management of childhood brain injury, it is hoped that clinicians and professionals could pay more attention to these issues and provide a comprehensive medical care for the patients and their families.

Matched MeSH terms: Siblings
Fulltext Choroidal neovascularization secondary to Best's vitelliform macular dystrophy in two siblings of a Malay family

Alisa-Victoria K, Jin-Poi T, Shatriah I, Zunaina E, Ngah NF

Clin Ophthalmol, 2014;8:537-42.
PMID: 24648718 DOI: 10.2147/OPTH.S55623

Best's vitelliform macular dystrophy complicated with choroidal neovascularization is rare in children. We report three children from a Malay family of five siblings with Best's vitelliform macular dystrophy, in which two of them subsequently developed choroidal neovascularization. The possible pathogenesis of this rare condition is described and highlighted in this report.

Matched MeSH terms: Siblings
Clinical characteristics and outcome of children with febrile convulsions

Abdul Wahab Jantan, Zabidi Azhar Mohd Husin

Malaysian Journal of Child Health, 1997;9(1):73-82.
MyJurnal

Objective: The clinical characteristics and out-come offebrile convulsions in children admitted to the University Hospital in Kubang Kerian were analysed in this retrospective study.

Method: The medical records of 244 children aged between 6 months to 5 years who presented with their first convulsions between January 1989 to December 1990 were reviewed. Patients were followed till one year after their first febrile convulsions.

Results: The mean age of presentation was 18.26 (s.d. 11.83) months. One hundred and thirty (54.5%) were males. Complex febrile convulsions were noted in 47.5% and simple febrile convulsions in 52.5%. Seventy-two children (29.5%) were less than one year old at the time offirst febrile convulsions. A family history offebrile convulsions was significantly higher in the complexfebrile convulsions group. Ten children (4.1%) presented with prolonged first febrile convulsions. Data on 117 children on follow-up were available for analysis. Recurrence of febrile convulsions occurred in fifty children (46.7%) with mean interval of 6.53 (s.d. 5.25) months. There was significant difference in children who presented with febrile convulsions at age of less than one year old and having family history offebrile convulsions with regard to recurrence. Three children developed epilepsy at a mean age of 31.56 months. Identifiable causes of febrile convulsions were upper respiratory infection, presumed viral infection (fever with rashes) and acute gastro-enteritis. Laboratory investiga-tions that were done were not helpful.

Conclusions: Children with a family history of febrile convulsions were more likely to develop complex febrile convulsions. Routine investi-gations were rarely helpful. The recurrence rate is significantly influenced by the age of presentation and family history of febrile convulsions in siblings or either parent. The types offebrile convulsions did not significantly influence the recurrent rate.

Matched MeSH terms: Siblings
Fulltext Clinical manifestation and genetic analysis of familial rare disease genodermatosis xeroderma pigmentosum

Yuniati R, Sihombing NRB, Nauphar D, Tiawarman B, Kartikasari DS, Dewi M, et al.

Intractable Rare Dis Res, 2021 May;10(2):114-121.
PMID: 33996357 DOI: 10.5582/irdr.2020.03143

Xeroderma pigmentosum (XP) is a rare autosomal recessive disease characterized by hypersensitivity of the skin to ultraviolet radiation and other carcinogenic agents. This ailment is characterized by increased photosensitivity, skin xerosis, early skin aging, actinic keratosis, erythematous lesions, and hyperpigmentation macules. In this serial case report, we presented four cases with XP from two families in Indonesia. Both families were referred from rural referral health centers, and each family has two affected siblings. They had freckle-like pigmentation on the face, trunk, and extremities, which progressed since childhood. One patient of family 2 died because of an infectious disease. Histopathological examination using cytokeratine (CK), CD10, and Ber-EP4 staining from available tissue biopsy of one affected case of family 1 identified basal cell carcinoma (BCC) on the cheek and melanoma on the right eye. Mutation analysis found ERCC2, c2047C>T and XPC, c1941T>A in the first and second families, respectively. We suppose that this is the first case report of XP in Indonesia that incorporates clinical examination, genetic analysis, and extensive histopathological examination, including immunohistochemistry staining, and a novel pathogenic variant of XPC was found in the second family.

Matched MeSH terms: Siblings
Fulltext Co-inheritance of compound heterozygous Hb Constant Spring and a single -alpha(3.7) gene deletion with heterozygous deltabeta thalassaemia: a diagnostic challenge

Azma RZ, Othman A, Azman N, Alauddin H, Ithnin A, Yusof N, et al.

Malays J Pathol, 2012 Jun;34(1):57-62.
PMID: 22870600

Haemoglobin Constant Spring (Hb CS) mutation and single gene deletions are common underlying genetic abnormalities for alpha thalassaemias. Co-inheritance of deletional and non-deletional alpha (alpha) thalassaemias may result in various thalassaemia syndromes. Concomitant co-inheritance with beta (beta) and delta (delta) gene abnormalities would result in improved clinical phenotype. We report here a 33-year-old male patient who was admitted with dengue haemorrhagic fever, with a background history of Grave's disease, incidentally noted to have mild hypochromic microcytic red cell indices. Physical examination revealed no thalassaemic features or hepatosplenomegaly. His full blood picture showed hypochromic microcytic red cells with normal haemoglobin (Hb) level. Quantitation of Hb using high performance liquid chromatography (HPLC) and capillary electrophoresis (CE) revealed raised Hb F, normal Hb A2 and Hb A levels. There was also small peak of Hb CS noted in CE. H inclusions was negative. Kleihauer test was positive with heterocellular distribution of Hb F among the red cells. DNA analysis for alpha globin gene mutations showed a single -alpha(-3.7) deletion and Hb CS mutation. These findings were suggestive of compound heterozygosity of Hb CS and a single -alpha(-3.7) deletion with a concomitant heterozygous deltabeta thalassaemia. Co-inheritance of Hb CS and a single -alpha(-3.7) deletion is expected to result at the very least in a clinical phenotype similar to that of two alpha genes deletion. However we demonstrate here a phenotypic modification of alpha thalassemia presumptively as a result of co-inheritance with deltabeta chain abnormality as suggested by the high Hb F level.

Matched MeSH terms: Siblings

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