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Sickle cell anemia associated with alpha-thalassemia in Malaysian Indians

Lie-Injo LE, Hassan K, Joishy SK, Lim ML

Am J Hematol, 1986 Jul;22(3):265-74.
PMID: 2424302

The Indian rubber estate workers in Negri Sembilan, Malaysia, who originated from Orissa in India were found to have a high frequency of Hb S (Joishy SK, Hassan K: Clin Res 28:280, 1980). Unlike the usually severe clinical picture of sickle cell anemia seen in African and American blacks, the clinical picture of the disease in this population was mild and many have reached old age. We studied the leukocyte DNA of 12 patients with sickle cell anemia, ranging in age from 4 to 61 years and 30 sickle cell trait carriers, ranging in age from 7 to 63 years, for the presence of alpha-globin gene deletions by gene mapping according to Southern (Southern EM: J Mol Biol 98:503, 1975), using alpha- and zeta-globin gene probes obtained by nick translation of the alpha- and zeta-globin genes cloned into plasmid. All 12 sickle cell anemia patients were found to have alpha-thalassemia2 (alpha-thal2), either in the homozygous or heterozygous condition. Of the Hb S trait carriers, six did not have alpha-thal2 or alpha-thal1 and 24 had alpha-thal2 (15 heterozygous, 9 homozygous). Seven of these Hb S trait carriers with alpha-thal2 had an additional gene abnormality. Five of them had a fast-moving Eco RI fragment 5.6 kb long that hybridized with zeta-specific probe but not with alpha-specific probe. An unusual DNA pattern of a different type was further found in the other two. Bgl II restriction analysis showed that the alpha-thal2 was mostly of the rightward deletion alpha-thal1 genotype. None of the sickle cell anemia patients and Hb S trait carriers had deletion type alpha-thal1. The sickle cell anemia patients had very high levels of Hb F and low levels of Hb A2. The Hb S trait carriers with alpha-thal2 had relatively low levels of Hb S.

Matched MeSH terms: Thalassemia/blood; Thalassemia/complications; Thalassemia/genetics*
Heterogenous beta-thalassaemia: Evaluation of the iron status

George-Kodiseri E, Faridah K, Mariam S

Family Physician, 1989;1:31-33.

Anaemia is present in 31.3% of male and 73.6% of female subjects heterogenous for beta thalassaemia. In males, none had serum ferritin (SF) levels less than 10 ng/ml. In contrast, female subjects with haemoglobins less than 12 gm/dl, had SF levels less than 20 ng/ml. Statistical differences in the Hb, RBC, MCV, MCH, MCHC abd HBA were found with the normal groups (p<0.001). Comparison of the SF levels in both the males and females show no difference from those in the normal groups (p<0.10). Iron loading was not a significant feature in both the males and females. Correlation of the SF with age shows a weak negative correlation. Married females with children showed that the SF levels fell significantly with increasing age, suggesting the possibility that repeated pregnancies may deplete iron stores as reflected by the SF levels. In countries where iron deficiency and thalassaemia are highly prevalent, assays of serum ferittin will indicate if there is a need for supplemental iron in subjects hetergenous for beta thalassaemia.

Matched MeSH terms: Thalassemia
Counseling for prenatal diagnosis and termination of pregnancy due to thalassemia major: a survey of health care workers' practices in Malaysia

Ngim CF, Lai NM, Ibrahim H

Prenat Diagn, 2013 Dec;33(13):1226-32.
PMID: 24014379 DOI: 10.1002/pd.4233

OBJECTIVE: Genetic counseling for thalassemia carriers is conducted by nongeneticist health care workers (HCWs) in many countries. The aim of the study was to assess Malaysian HCWs' genetic counseling practices with regards to discussing prenatal diagnosis (PND) and termination of pregnancy (TOP) when counseling thalassemia carriers.
METHOD: A total of 118 Malaysian HCWs (52 doctors and 66 nurses) completed a structured questionnaire that enquired if they would discuss PND and TOP when counseling couples with thalassemia traits, and reasons for their responses were explored.
RESULTS: All the nurses and 50 (96.1%) doctors were in favor of discussing PND. Only 29 (58%) doctors and 33 (50%) nurses were agreeable to discuss about the option of TOP. Main reasons given for declining to discuss TOP were views that "the condition was not serious enough" (54.9%), TOP is not permissible by their religion (17.6%) and abortion for this indication was illegal (13.7%).
CONCLUSION: The results showed that HCWs in Malaysia lacked the comprehensive information and necessary skills required when counseling thalassemia carriers. When nongeneticist HCWs are tasked with such responsibilities, their practices and attitudes should be regularly evaluated so that areas of deficiencies could be identified and addressed.

Matched MeSH terms: beta-Thalassemia/diagnosis*; beta-Thalassemia/genetics; beta-Thalassemia/psychology
Fulltext Desferrioxamine treatment in thalassaemia: a cost utility analysis

Dahlui, M., Hishamshah, M.I., Rahman, A.J. A, Shamsuddin, K., Aljunid, S.M.

Malaysian Journal of Public Health Medicine, 2007;7(2):4-9.
MyJurnal

A cost-utility analysis was performed desferrioxamine treatment in thalctssaemia patients at two tertiary hospitals in Malaysia in 2004. A hundred and twelve transfusion dependent thalassaemia patients were grouped according to the status of desferrioxamine; optimum and sulwptimum. Cost analysis was from a patient and hospital perspectives while Quality Adjusted Life Years (QALYs) was the health outcome of choice. Incremental Cost·Effectiveness Ratio (ICER) was also stipulated to show the difference in cost for an additional QALY if patient currently on suboptimum desferrioxamine to switch using optimum desferrioxamine. Results on cost analysis showed the mean cost of treatment for thalassaemia patients on optimum desferrioxamirie was higher than those on sub·optimum desferrioxamine; (RM14, 775.00+SDRM4,737.00 and RM10,780+RM3,655, respectively). QALYs were 19.186+6.591 and 9.859+5275 in the optimum and suboptirnum group, respectively. Costutility analysis showed the cost per QALYs in optimum desferrioxamine group was RM59,045.00 compared to RM44,665.00 in suboptimum desferrioxamine group. ICER of patients on sub-optimum desferrioxamine switching to optimum desferrioxarnine was only RM420.39. Sensitivity analysis showed that the results were robust in the best and worst scenarios. In conclusion, although it is expensive for thalassaemia patients to use optimum desferrioxamine compared to sub-optimum desferrioxamine, the cost per QALYs gained was undoubtedly low.

Matched MeSH terms: Thalassemia
Knowledge, attitude and practice of parents of children with Thalassaemia towards their children's disease.Pengetahuan, sikap serta tindakan yang diambil oleh ibubapa kanak-kanak berpenyakit Thalassaemia terhadap penyakit anak mereka.]

Krishnan R, Chin WL, Sinniah D

Family Physician, 1991;3:24-27.

We studied the knowledge, attitude and practice of 27 parents of children with Thalassaemia towards their children's disease. The parents' knowledge was satisfactory. Most of them did not reveal details of the disease to their affected children. Some of them had further children despite being explained the risk of recurrence. Parents found it difficult to obtain regular blood donors and some had to resort to 'buying' blood. The Malaysian Association of Thalassaemia has a role to play in the education of patients, their parents and the public.

Matched MeSH terms: Thalassemia
Fulltext Peripheral haemolysis, lipid peroxidation, iron status, and vitamin E in haemoglobin H syndromes in West Malaysia

George E, Wong HB, Jamaluddin M, Huisman TH

Singapore Med J, 1993 Jun;34(3):241-4.
PMID: 8266182

Following complete DNA characterisation patients with Hb H disease were assigned into two groups: deletional (alpha +/alpha o) and non deletional (HbCS/alpha o). Earlier studies have indicated that the group with (HbCS/alpha o) has more severe clinical problems. The serum malonyldialdehyde (MDA) levels, a secondary product of lipid peroxidation were within the normal range, though significantly higher levels of MDA were seen in the non-deletional type of Hb H disease when compared with the deletional type. Markedly low vitamin E levels were also seen in the former group. There were no significant differences in clinical severity may be attributed to an interplay of the accelerated destruction of damaged mature red blood cells secondary to the oxidative denaturation of Hb H and inclusion precipitation; higher levels of Hb H and more inclusion precipitation were seen in the group with (HbCS/alpha o). Low levels of vitamin E in the (HbCS/alpha o) group being due to its consumption in the neutralisation of free radicals formed with the oxidation of globin chains.

Matched MeSH terms: alpha-Thalassemia/blood*; alpha-Thalassemia/drug therapy; alpha-Thalassemia/genetics*
Fulltext The Predictor Role of Perceived Social Support and Spiritual Intelligence in Hope Among Thalassemia Patients

Pasyar N, Rambod M, Behrouzi Z

Malays J Med Sci, 2020 May;27(3):75-83.
PMID: 32684808 DOI: 10.21315/mjms2020.27.3.8

Background: Thalassemia is a prevalent chronic blood disorder, which is accompanied with a wide range of challenges. This study aimed to determine the predictor role of perceived social support and spiritual intelligence in hope among thalassemia patients.
Methods: This cross-sectional study was conducted on 300 thalassemia patients. The data were collected using Miller hope scale, spiritual intelligence scale, and personal resource questionnaire. The data were analysed using Pearson's correlation coefficient and multiple regression analysis.
Results: The results indicated that the mean score of hope was 173.38 (standard deviation [SD] = 24.6). Besides, 86.7% of the patients showed high levels of hope. The mean score of spiritual intelligence was 134.66 (SD = 18.07). In addition, 91.7% of the patients showed moderate levels of spiritual intelligence. The mean score of social support was 127.87 (SD = 20.19) and the patients showed high social support levels. The results revealed a significant association between hope and perceived social support (r = 0.65, P < 0.001) as well as between hope and spiritual intelligence (r = 0.63, P < 0.001). Moreover, perceived social support (b = 0.43, P < 0.001) and spiritual intelligence (b = 0.37, P < 0.001) were the predictors of hope among thalassemia patients.
Conclusion: Considering the study results, in addition to common treatments for thalassemia, policymakers' are recommended to pay attention to spiritual intelligence and more importantly social support to enhance thalassemia patients' hope.

Matched MeSH terms: Thalassemia
[Case of deletion type beta(0)-thalassemia found in an Asian (Malaysian) family living in Japan]

Harano K, Harano T

Rinsho Byori, 2010 Apr;58(4):325-31.
PMID: 20496759

Hb and gene analyses of a Malaysian mother and her two daughters with microcytic anemia living in Japan were performed. Hb analyses of their hemolysates by IEF and DEAE-HPLC revealed high values of Hb A2 and HbF, but abnormal Hbs such as Hb E and Hb Constant Spring, which cause beta- and alpha-thalassemia traits, were not detected. From these data, they were suspected to be beta-thalassemia carriers. The thalassemic mutations commonly found in the Asian area by ARMS and nucleotide sequencing methods were not detected, and the frameworks of the beta-globin gene and the haplotypes of the beta-like globin gene cluster between the mother and daughters were not identical. These results led us to conclude that there was a beta(0)-thalassemia mutation with a large deletion from the beta-globin gene beyond the 3'beta/BamHI polymorphic site 3' downstream to the beta-globin gene. However, the range of the deletion from the beta-like globin gene cluster has not yet been completed in detail. Recently, there have been many foreigners mainly from Asian countries in Japan. We may encounter people with the rare type thalassemic mutation described in the text besides the mutations frequently found in Asian countries.

Matched MeSH terms: beta-Thalassemia/genetics*
Fulltext Molecular characterisation and frequency of Ggamma Xmn I polymorphism in Chinese and Malay beta-thalassaemia patients in Malaysia

Wong YC, George E, Tan KL, Yap SF, Chan LL, Tan JA

Malays J Pathol, 2006 Jun;28(1):17-21.
PMID: 17694955

The molecular basis of variable phenotypes in P-thalassaemia patients with identical genotypes has been associated with co-inheritance of alpha-thalassaemia and persistence of HbF production in adult life. The Xmn I restriction site at -158 position of the Ggamma-gene is associated with increased expression of the Ggamma-globin gene and higher production of HbF This study aims to determine the frequency of the digammaferent genotypes of the Ggamma Xmn I polymorphism in P-thalassaemia patients in two ethnic groups in Malaysia. Molecular characterisation and frequency of the Ggamma Xmn I polymorphism were studied in fifty-eight Chinese and forty-nine beta-thalassaemia Malay patients by Xmn I digestion after DNA amplification of a 650 bp sequence. The in-house developed technique did not require further purification or concentration of amplified DNA before restriction enzyme digestion. The cheaper Seakem LE agarose was used instead of Nusieve agarose and distinct well separated bands were observed. Genotyping showed that the most frequent genotype observed in the Malaysian Chinese was homozygosity for the absence of the Xmn I site (-/-) (89.7%). In the Malays, heterozygosity of the Xmn I site (+/-) was most common (63.3%). Homozygosity for the Xmn I site (+/+) was absent in the Chinese, but was confirmed in 8.2% of the Malays. The ratio of the (+) allele (presence of the Xmn I site) to the (-) allele (absence of the Xmn I site)) was higher in the Malays (0.66) compared to the Chinese (0.05). The (+/-) and (+/+) genotypes are more commonly observed in the Malays than the Chinese in Malaysia.

Matched MeSH terms: beta-Thalassemia/genetics*
Fulltext High throughput molecular confirmation of β-thalassemia mutations using novel TaqMan probes

Kho SL, Chua KH, George E, Tan JA

Sensors (Basel), 2013;13(2):2506-14.
PMID: 23429513 DOI: 10.3390/s130202506

β-Thalassemia is a public health problem where 4.5% of Malaysians are β-thalassemia carriers. The genetic disorder is caused by defects in the β-globin gene complex which lead to reduced or complete absence of β-globin chain synthesis. Five TaqMan genotyping assays were designed and developed to detect the common β-thalassemia mutations in Malaysian Malays. The assays were evaluated with 219 "blinded" DNA samples and the results showed 100% sensitivity and specificity. The in-house designed TaqMan genotyping assays were found to be cost- and time-effective for characterization of β-thalassemia mutations in the Malaysian population.

Matched MeSH terms: beta-Thalassemia/genetics*
Non-invasive cardiac assessment in beta-thalassaemia major

Ong ML, Hatle LK, Lai VM, Bosco J

Int J Clin Pract, 2002 Jun;56(5):345-8.
PMID: 12137442

Iron deposition in the heart occurs in beta-thalassaemia major and contributes to cardiac dysfunction. Eighteen patients with beta-thalassaemia major were assessed clinically and had non-invasive investigations. They were young (15.5 +/- 3.6 years). Two patients had clinical heart failure. Doppler echocardiography demonstrated higher transmitral peak flow velocity in early and late diastole compared with controls (e: p<0.05, a: p<0.01). Transtricuspid peak late diastolic flow velocity was higher in patients (p<0.005). Isovolumic relaxation time was shortened (p<0.001). Pulmonary venous flow velocity was higher in diastole than systole (S: 0.51 +/- 0.11 m/s, D: 0.62 +/- 0.08 m/s). Reversal of pulmonary venous flow during atrial systole was seen in eight patients. These diastolic filling abnormalities did not significantly change with blood transfusion. Left ventricular ejection fraction was normal in patients. Two patients had cardiomegaly on chest X-ray. In beta-thalassaemia with iron overload, there is a restrictive pattern of diastolic dysfunction. This is not altered by recent blood transfusion. Left ventricular function remains relatively intact.

Matched MeSH terms: beta-Thalassemia/complications*
Cure of beta-thalassaemia major by umbilical cord blood transplantation--a case report of Malaysia's first cord blood transplantation

Chan LL, Lin HP

J Trop Pediatr, 1999 Aug;45(4):243-5.
PMID: 10467839

A 25-month-old boy with beta-thalassaemia major was presented with an opportunity for umbilical cord blood transplantation when his unborn sibling was diagnosed in utero to be a beta-thalassaemia carrier and also human leucocyte antigen compatible. A barely adequate amount of cord blood was collected at the birth of his sibling and infused into the patient after appropriate chemo-conditioning. Engraftment occurred without major complications. The subject is now alive and well 9 months post-transplant, thus marking our first success in umbilical cord blood transplantation.

Matched MeSH terms: beta-Thalassemia/therapy*
Fulltext Genetic diseases and antenatal diagnosis

Wong HB

Med J Malaysia, 1985 Sep;40(3):153-64.
PMID: 3916209

The different methods of prenatal diagnosis are discussed with special reference to ultrasound scan, amniocentesis for cell culture with processing for chromosome study, biochemical analysis and DNA recombination analysis. Chorionic villi aspiration and fetoscopy are new methods which will enhance considerably the methods for prenatal diagnosis. With regard to chromosome study of amniotic cells, experience with 623 cases is reviewed. 2.7% demonstrated chromosome anomalies and of these Downs anomaly was the commonest. A large proportion of cases requesting for amniocentesis are Caucasians who represent only 2% of the population in Singapore, but 25% of the 440 requests were from Caucasions. The various problems associated with the different methods for prenatal deafness are discussed.

Matched MeSH terms: Thalassemia/diagnosis
Fulltext Hepatitis B infection in multitransfused thalassaemics

George E, Ilina I, Yasmin AM, George R, Duraisamy G

Med J Malaysia, 1988 Dec;43(4):284-7.
PMID: 3241594
Matched MeSH terms: Thalassemia/blood*
Fulltext Combined needlescopic cholecystectomy and laparoscopic splenectomy for the treatment of thalassaemic splenomegaly and cholelithiasis

Jasmi AY, Thambidorai CR, Khairussalleh J

Med J Malaysia, 2003 Aug;58(3):443-5.
PMID: 14750388

Gallstone disease is a common association in patients with haematological splenomegaly. When indicated, simultaneous splenectomy and cholecystectomy should be performed and traditionally this is accomplished by open surgery. We report a 17 year old thalassaemic girl with splenomegaly complicated by gallstone pancreatitis. We treated her with a combination of needlescopic cholecystectomy and laparoscopic splenectomy as well as delivering the huge spleen via a pfannenstiel incision to hide the scar. We believe this technique is an acceptable alternative mainly for rapid delivery of the spleen and to minimize visible scars hence improving cosmesis.

Matched MeSH terms: beta-Thalassemia/complications*
MRI for the diagnosis of cardiac and liver iron overload in patients with transfusion-dependent thalassemia: An algorithm to guide clinical use when availability is limited

Viprakasit V, Ajlan A, Aydinok Y, Al Ebadi BAA, Dewedar H, Ibrahim AS, et al.

Am J Hematol, 2018 06;93(6):E135-E137.
PMID: 29473204 DOI: 10.1002/ajh.25075
Matched MeSH terms: Thalassemia/complications*
Siriraj I Gγ(Aγδβ)0-thalassaemia causing severe thalassaemia intermedia in compound heterozygous state with IVS1-1(G→T) mutation

Wong YY, Alauddin H, Raja Sabudin RZA, Ithnin A, Jalil N, Abdul Latiff Z, et al.

Malays J Pathol, 2021 Apr;43(1):95-100.
PMID: 33903312

The Siriraj I Gγ(Aγδβ)0-thalassaemia is a novel mutation involving a 118kb deletion of the β-globin gene cluster. It was first reported in 2012 in two unrelated families from the southern part of Thailand. The carriers in the heterozygous state are clinically asymptomatic. Nonetheless, its complex interaction with other β-thalassaemia could give rise to different clinical phenotypes, ranging from mild thalassaemia intermedia to thalassaemia major. We report here a case of a six-year-old Malay boy, presented with pallor, growth failure and hepatosplenomegaly. His haemoglobin at presentation was 9.2g/dL with a mean cell haemoglobin of 22.6pg and a mean cell volume of 69.9fl. His peripheral blood smear showed features of thalassaemia intermedia. Haemoglobin (Hb) analysis revealed markedly raised Hb F (83%), normal HbA2 levels and absent HbA. Deoxyribonucleic acid (DNA) analysis showed compound heterozygous IVS1-1 (G→T) β-globin gene mutation and Siriraj I Gγ(Aγδβ)0-deletion (genotype βIVS1-1/ β Siriraj I deletion). Both his father and elder sister are carriers of Siriraj I Gγ(Aγδβ)0-thalassaemia while his mother carries IVS1-1 (G→T) gene mutation. Clinically, the patient is transfusion dependent on six weekly regime. To the best of our knowledge, this is the first reported case in Malaysia involving unique Siriraj I Gγ(Aγδβ)0-thalassaemia and IVS1-1 (G→T) in a compound heterozygous state. In summary, detection of Siriraj I Gγ(Aγδβ)0-thalassaemia is essential as this deletion can lead to severe disease upon interaction with a β-thalassemia point mutation as demonstrated in our case. The establishment of effective carrier screening and genetic counselling is important to prevent its adverse consequences.

Matched MeSH terms: alpha-Thalassemia; beta-Thalassemia
Fulltext Compliance and barriers of beta-thalassaemia patients towards iron chelation therapy in Hospital Keningau, Sabah. [Abstract]

Elfira Cassandra Enderik, Syahrizal Azizi Shaharudin, Gan, Siaw Yun, Tan, Wei Chong, Adong, Arthur James, Ho, Jackie Chit Khong, et al.

Borneo Journal of Medical Sciences, 2019;2(101):7-8.
MyJurnal

Introduction: Long-term survival in beta-thalassaemia major is strongly influenced by adherence to iron chelation therapy. Identifying factors that influence the compliance remains the first step in improving iron chelation therapy. Objective:Due to increase in number of non-compliance to iron chelation therapy for patients in Hospital Keningau, Keningau, Sabah, we aim to evaluate the compliance, identify the factors and assess disease knowledge of patients so that preventive measurement can be formulated. Methodology: This was a cross-sectional study conducted in Hospital Keningau by a combination of self-administered and interviewer-administered survey. The survey consists of 3 domains – knowledge assessment based on 10 items, identifying factors for non-compliance and compliance to treatment. Percentage of compliance was measured based on amount taken reported by patients over the intended therapy. Association between knowledge and compliance was measured using Pearson’s Chi Square. Results: A number of 52 patients completed the survey. The average age was 18 ± 4.77 years. The mean knowledge score was 6.15 out of 10. The percentage of compliance to desferrioxamine was 78.2 ± 30.2% while for deferiprone it was 72.4 ± 32.6%. There were no association between knowledge score and compliance to desferrioxamine (p = 0.893) and deferiprone (p = 0.874). Lazziness and pain were the main reasons for non-compliance chosen by patients on desferrioxamine ABSTRACTCompliance and Barriers of Beta-Thalassaemia Patients towards Iron Chelation Therapy in Hospital Keningau, SabahElfira Cassandra Enderik1*, Syahrizal Azizi bin Shaharudin1, Gan Siaw Yun1, Tan Wei Chong1, Arthur James Adong1, Jackie Ho Chit Khong1, Shamadevi Pasupathi1, Maggie Low May Yee1, Sivaraj Raman1Borneo Journal of Medical Sciences (BJMS), Special Issue, Volume 2, March 2019: 7 – 81 Pharmacy Department, Hospital Keningau, Keningau, Sabah, Malaysia* Corresponding author’s email: elfira_11@yahoo.comBorneo Journal of Medical SciencesBJMSKeywords:thalassaemia, compliance, knowledge, factor NMRR Research ID: NMRR-18-404-39581
8Borneo Journal of Medical Sciences (BJMS),Special Issue, Volume 2, March 2019: 7 – 811 (3): 35 – 38(19.2%) while for deferiprone it was lazziness (23.1%) and side effects (19.2%). The poor compliance was reflected on the high average ferritin levels of respondents (7573 ± 5749). Conclusion: Even though most adolescents had knowledge about their disease, it did not affect patients’ compliance to therapy. Lazziness was the most prominent factor for non-compliance in adolescents in our study. This might be because iron chelation therapy is usually seen as a hindrance to independence. Thus in order to improve compliances, further study is needed to investigate the association between compliance and the affecting factors identified in our study.

Matched MeSH terms: Thalassemia; beta-Thalassemia
Genetic Modifiers of Fetal Haemoglobin (HbF) and Phenotypic Severity in β-Thalassemia Patients

Razak SAA, Murad NAA, Masra F, Chong DLS, Abdullah N, Jalil N, et al.

Curr Mol Med, 2018;18(5):295-305.
PMID: 30289070 DOI: 10.2174/1566524018666181004121604

BACKGROUND: The phenotypic severity of β-thalassemia is highly modulated by three genetic modifiers: β-globin (HBB) mutations, co-inheritance of α-thalassemia and polymorphisms in the genes associated with fetal haemoglobin (HbF) production. This study was aimed to evaluate the effect of HbF related polymorphisms mainly in the HBB cluster, BCL11A (B-cell CLL/lymphoma 11A) and HBS1L-MYB (HBS1-like translational GTPase-MYB protooncogene, transcription factor) with regards to clinical severity.
METHODS: A total of 149 patients were included in the study. HBA and HBB mutations were characterised using multiplex PCR, Sanger sequencing and multiplex ligationdependent probe amplification. In addition, 35 HbF polymorphisms were genotyped using mass spectrometry and PCR-restriction fragment length polymorphism (PCRRFLP). The genotype-phenotype association was analysed using SPSS version 22.
RESULTS: Twenty-one HBB mutations were identified in the study population. Patients with HBB mutations had heterogeneous phenotypic severity due to the presence of other secondary modifiers. Co-inheritance of α-thalassemia (n = 12) alleviated disease severity of β-thalassemia. In addition, three polymorphisms (HBS1LMYB, rs4895441 [P = 0.008, odds ratio (OR) = 0.38 (0.18, 0.78)], rs9376092 [P = 0.030, OR = 0.36 (0.14, 0.90)]; and olfactory receptor [OR51B2] rs6578605 [P = 0.018, OR = 0.52 (0.31, 0.89)]) were associated with phenotypic severity. Secondary analysis of the association between single-nucleotide polymorphisms with HbF levels revealed three nominally significant SNPs: rs6934903, rs9376095 and rs9494149 in HBS1L-MYB.
CONCLUSION: This study revealed 3 types of HbF polymorphisms that play an important role in ameliorating disease severity of β-thalassemia patients which may be useful as a predictive marker in clinical management.

Matched MeSH terms: beta-Thalassemia/genetics*
Haemoglobin Constant Spring (HbA2: c.427T>C) and Haemoglobin Adana (HbA2: c.179G>A) in jaundiced Malaysian term neonates with clinically significant hyperbilirubinemia

Shwe S, Boo NY, Ong HK, Chee SC, Maslina M, Ling MMM, et al.

Malays J Pathol, 2020 Aug;42(2):253-257.
PMID: 32860378

INTRODUCTION: Haemoglobin Constant Spring (Hb CoSp) and Haemoglobin Adana (Hb Adana), are two non-deletion type of α-thalassemia reported in Malaysia. Owing to their structural instability, they cause hemolysis and hyperbilirubinemia. This observational study was part of a large study investigating multiple factors associated with severe neonatal jaundice. In this part we aimed to determine the prevalence of Hb CoSp and Hb Adana and their association with clinically significant neonatal hyperbilirubinemia (SigNH, total serum bilirubin (TSB>290µmol/L)) among jaundiced Malaysian term neonates.
MATERIALS AND METHODS: The inclusion criteria were normal term-gestation neonates admitted consecutively for phototherapy. PCR-restriction fragment length polymorphism method was applied on DNA extracted from dry blood spot specimens of each neonate to detect for Hb CoSp and Hb Adana gene. Positive samples were verified by gene sequencing.
RESULTS: Of the 1121 neonates recruited (719 SigNH and 402 no-SigNH), heterozygous Hb CoSp gene was detected in only two (0.27%) neonates. Both were SigNH neonates (0.3% or 2/719). No neonate had Hb Adana variant.
CONCLUSION: Hb CoSp was not common but could be a risk factor associated with SigNH. No Hb Adana was detected.

Matched MeSH terms: alpha-Thalassemia/diagnosis*

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