MyMedR

Some aspects of the study of abnormal haemoglobins

Lie-Injo LE

Med J Malaya, 1961 Dec;16:94-106.

PMID: 14465149

Matched MeSH terms: Hemoglobins, Abnormal*

Abnormal haemoglobins in Malay and Nepalese Gurkhasoldiers

VELLA F, FIELD TE

Med J Malaya, 1958 Dec;13(2):153-8.

PMID: 13632213

Matched MeSH terms: Hemoglobins, Abnormal*

Fulltext First observation of haemoglobin Malay alpha 2B2 26 (B1) Asn----Ser--a case report

George E, Huisman TH, Yang KG, Kutlari F, Wilson JB, Kutlar A, et al.

Med J Malaysia, 1989 Sep;44(3):259-62.

PMID: 2626142

A new haemoglobin, Haemoglobin Malay is described in a 22 year old Malay. Structural analysis showed a AAC----AGC mutation in codon 17, with the production of an abnormal beta chain (beta Malay) that has an Asn----Ser substitution at position beta 19. This haemoglobin variant could not be detected by conventional procedures.

Matched MeSH terms: Hemoglobins, Abnormal*

Family with hereditary persistence of foetal haemoglobin

Boon WH

Med J Malaya, 1968 Sep;23(1):61-6.

PMID: 4237561

Matched MeSH terms: Hemoglobins, Abnormal*

Haemoglobin E--thalassaemia in Kelantan

Poi Tzse Chiat D

Med J Malaya, 1965 Mar;19(3):184-7.

PMID: 4220470

Matched MeSH terms: Hemoglobins, Abnormal*

Haemoglobin D trait in a Filipino family

VELLA F

Med J Malaya, 1958 Jun;12(4):602-4.

PMID: 13577152

Matched MeSH terms: Hemoglobins, Abnormal*

Iron overload in anaemia with underlying haemoglobin constant spring in an antenatal mother in primary care

Thew HZ, Ng CH, Loo CY

BMJ Case Rep, 2024 Feb 17;17(2).

PMID: 38367998 DOI: 10.1136/bcr-2023-258526

This is the case of a gravida 3 para 1 woman in her late 20s with underlying haemoglobin constant spring who visited a healthcare clinic for an antenatal check-up. Towards the end of her second trimester, she experienced lethargy. During her antenatal booking, she was diagnosed with mild asymptomatic anaemia, high serum ferritin, T saturation of 88% and abnormal liver function tests. She was referred to a hospital where an MRI scan revealed over 2 g of iron deposits in her liver, leading to a revised diagnosis of iron overload. Treatment included deferoxamine and expectant management throughout her antenatal period, and her delivery was uncomplicated. While iron deficiency anaemia is common in pregnancy, it is crucial not to overlook iron deposition and the distinction from acute fatty liver during pregnancy to prevent treatment delays.

Matched MeSH terms: Hemoglobins, Abnormal*

Fulltext Distribution of alpha thalassaemia gene variants in diverse ethnic populations in malaysia: data from the institute for medical research

Ahmad R, Saleem M, Aloysious NS, Yelumalai P, Mohamed N, Hassan S

Int J Mol Sci, 2013;14(9):18599-614.

PMID: 24025420 DOI: 10.3390/ijms140918599

Alpha thalassaemia is highly prevalent in the plural society of Malaysia and is a public health problem. Haematological and molecular data from 5016 unrelated patients referred from various hospitals to the Institute for Medical Research for α thalassaemia screening from 2007 to 2010 were retrieved. The aims of this retrospective analysis were to describe the distribution of various alpha thalassaemia alleles in different ethnic groups, along with their genotypic interactions, and to illustrate the haematological changes associated with each phenotype. Amongst the patients, 51.2% (n = 2567) were diagnosed with α thalassaemia. Of the 13 α thalassaemia determinants screened, eight different deletions and mutations were demonstrated: three double gene deletions, --(SEA), --(THAI), --(FIL); two single-gene deletions, α-³·⁷ and -α⁴·²; and three non-deletion mutations, Cd59G > A (haemoglobin [Hb] Adana), Cd125T > C (Hb Quong Sze) and Cd142 (Hb Constant Spring). A high incidence of α-³·⁷ deletion was observed in Malays, Indians, Sabahans, Sarawakians and Orang Asli people. However, the --SEA deletion was the most common cause of alpha thalassaemia in Chinese, followed by the α-³·⁷ deletion. As many as 27 genotypic interactions showed 1023 α thalassaemia silent carriers, 196 homozygous α⁺ thalassaemia traits, 973 heterozygous α⁰ thalassaemia carriers and 375 patients with Hb H disease. Statistical analysis showed a significant difference in the distribution of α thalassaemia determinants amongst the various ethnic groups. Hence, the heterogeneous distribution of common determinants indicated that the introduction of an ethnicity-targeted hierarchical α thalassaemia screening approach in this multi-ethnic Malaysian population would be effective.

Matched MeSH terms: Hemoglobins, Abnormal/genetics

Fulltext Analysis of α1 and α2 globin genes among patients with hemoglobin Adana in Malaysia

Lee TY, Lai MI, Ismail P, Ramachandran V, Tan JA, Teh LK, et al.

Genet. Mol. Res., 2016 Apr 07;15(2).

PMID: 27173219 DOI: 10.4238/gmr.15027400

Hemoglobin (Hb) Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] is a non-deletional α-thalassemia variant found in Malaysia. An improvement in the molecular techniques in recent years has made identification of Hb Adana much easier. For this study, a total of 26 Hb Adana α-thalassemia intermedia and 10 Hb Adana trait blood samples were collected from patients. Common deletional and non-deletional α-thalassemia genotypes were determined using multiplex gap polymerase chain reaction (PCR) and multiplex ARMS PCR techniques. Identification of the Hb Adana location on the α-globin gene was carried out using genomic sequencing and the location of the mutation was confirmed via restriction fragment length polymorphism-PCR. Among the 36 samples, 24 (66.7%) had the -α(3.7)/α(Cd59)α mutation, while the -α(3.7)/α(Cd59)α mutation accounted for 2 samples (5.6%) and the remaining 10 (27.8%) samples were α/α(Cd59)α. All 36 samples were found to have the Hb Adana mutation on the α2-globin gene. The position of the α-globin gene mutation found in our cases was similar to that reported in Indonesia (16%) but not to that in Turkey (0.6%). Our results showed that the Hb Adana mutation was preferentially present in the α2-globin genes in Malays compared to the other ethnicities in Malaysia. Thus, the Malays might have similar ancestry based on the similarities in the Hb Adana position.

Matched MeSH terms: Hemoglobins, Abnormal/genetics*

Fulltext Haemoglobin E trait: microcytosis and erythrocytosis

George E, Sivagengei K

Med J Malaysia, 1982 Jun;37(2):102-3.

PMID: 7132828

Matched MeSH terms: Hemoglobins, Abnormal/analysis*

Small haemoglobin components accompanying Hb Bart's in newborns

Lie-Injo LE

Med J Malaya, 1972 Dec;27(2):120-4.

PMID: 4268037

Matched MeSH terms: Hemoglobins, Abnormal/analysis*

Abnormal hemoglobins, glucose-6-phosphate dehydrogenase deficiency and hereditary ovalocytosis in the Dayaks of Sarawak

Ganesan J, Lie-Injo LE, Ong Beng P

Hum. Hered., 1975;25(4):258-62.

PMID: 1184011 DOI: 10.1159/000152733

A survey of abnormal hemoglobins, G6PD deficiency and hereditary ovalocytosis was carried out among the Dayaks of Sarawak. The only abnormal hemoglobin found was Hb Co Sp, which occurred in 0.35% of the Land Dayaks and 0.83% of the Sea Dayaks. G6PD deficiency occurred in 5.3% of the male Land Dayaks and 5.0% of the male Sea Dayaks; no electrophoretic variant of G6PD was found in any of the 285 Land Dayaks and 240 Sea Dayaks examined. Hereditary ovalocytosis was found in 12.7% of the Land Dayaks and 9.0% of the Sea Dayaks.

Matched MeSH terms: Hemoglobins, Abnormal*

Haemoglobin E-hereditary elliptocytosis in Malayan aborigines

Lie-Injo LE, Fix A, Bolton JM, Gilman RH

Acta Haematol., 1972;47(4):210-6.

PMID: 4625303

Matched MeSH terms: Hemoglobins, Abnormal*

Hb E-beta thalassaemia in the West Malaysian Orang Asli (aborigines)

Bolton JM, Lie-Injo Luan Eng

Med J Malaya, 1969 Sep;24(1):36-40.

PMID: 4244260

Matched MeSH terms: Hemoglobins, Abnormal*

Fulltext Secondary polycythaemia in a Malay girl with homozygous Hb Tak

Amran HS, Aziz MA, George E, Mahmud N, Lee TY, Md Noor S

Malays J Pathol, 2017 Dec;39(3):321-326.

PMID: 29279598 MyJurnal

Hb Tak is one of more than 200 high affinity haemoglobin variants reported worldwide. It results from the insertion of two nucleotides (AC) at the termination codon, between codon 146 and codon 147 of the beta-globin gene [Beta 147 (+AC)]. Polycythaemia is the main clinical feature although affected carriers are usually asymptomatic and do not require intervention. Several case studies in this region have reported the co-inheritance of Hb Tak with Hb E, delta beta and beta thalassaemia with one case of homozygous Hb Tak in a Thai boy. In this case report, a cluster of haemoglobin Tak was found in a family of Malay ethnic origin. Cascade family screening was conducted while investigating a 4-year old girl who presented with symptomatic polycythaemia. She had 2 previous Hb analysis done, at 7-month and 2-year-old with the diagnosis of possible Hb Q Thailand and Homozygous Hb D, respectively. Both diagnosis did not fit her clinical presentations. She was plethoric, had reduced exercise tolerance as well as cardiomyopathy. Her parents were consanguineously married and later diagnosed as asymptomatic carriers of Hb Tak. Consequently, re-analysis of the girl's blood sample revealed a homozygous state of Hb Tak. In conclusion, high oxygen affinity haemoglobin like Hb Tak should be considered in the investigation of polycythaemic patients with abnormal Hb analyses. In this case, DNA analysis was crucial in determining the correct diagnosis.

Matched MeSH terms: Hemoglobins, Abnormal/genetics*

Epidemiology of clinically significant forms of alpha- and beta-thalassemia: A global map of evidence and gaps

Musallam KM, Lombard L, Kistler KD, Arregui M, Gilroy KS, Chamberlain C, et al.

Am J Hematol, 2023 Sep;98(9):1436-1451.

PMID: 37357829 DOI: 10.1002/ajh.27006

This systematic literature review assessed the global prevalence and birth prevalence of clinically significant forms of alpha- and beta-thalassemia. Embase, MEDLINE, and the Cochrane Library were searched for observational studies published January 1, 2000, to September 21, 2021. Of 2093 unique records identified, 69 studies reported across 70 publications met eligibility criteria, including 6 records identified from bibliography searches. Thalassemia prevalence estimates varied across countries and even within countries. Across 23 population-based studies reporting clinically significant alpha-thalassemia (e.g., hemoglobin H disease and hemoglobin Bart's hydrops fetalis) and/or beta-thalassemia (beta-thalassemia intermedia, major, and/or hemoglobin E/beta-thalassemia), prevalence estimates per 100 000 people ranged from 0.2 in Spain (over 2014-2017) to 27.2 in Greece (2010-2015) for combined beta- plus alpha-thalassemia; from 0.03 in Spain (2014-2017) to 4.5 in Malaysia (2007-2018) for alpha-thalassemia; and from 0.2 in Spain (2014-2017) to 35.7 to 49.6 in Iraq (2003-2018) for beta-thalassemia. Overall, the estimated prevalence of thalassemia followed the predicted pattern of being higher in the Middle East, Asia, and Mediterranean than in Europe or North America. However, population-based prevalence estimates were not found for many countries, and there was heterogeneity in case definitions, diagnostic methodology, type of thalassemia reported, and details on transfusion requirements. Limited population-based birth prevalence data were found. Twenty-seven studies reported thalassemia prevalence from non-population-based samples. Results from such studies likely do not have countrywide generalizability as they tended to be from highly specific groups. To fully understand the global prevalence of thalassemia, up-to-date, population-based epidemiological data are needed for many countries.

Matched MeSH terms: Hemoglobins, Abnormal*

Hemoglobin Tak in a newborn Malay

Lie-Injo LE, Randhawa ZI, Ganesan J, Kane J, Peterson D

Hemoglobin, 1977;1(8):747-57.

PMID: 604313

The trait condition for hemoglobin Tak, was found in a 4-day old newborn Malay who suffered from severe neonatal jaundice. The beta chain of the abnormal hemoglobin was elongated by 11 residues at the C-terminus and had the same structure as reported for Hb Tak. The mother was heterozygous for this abnormal hemoglobin, the father was normal. The mother and child, 4 years later, did not show clinical or hematological symptoms except definitely increased resistance of their erythrocytes to hypotonic saline solutions and slight anisopoikilocytosis. The abnormal gene in the two reported Thai families and in our Malay family may have the same origin.

Matched MeSH terms: Hemoglobins, Abnormal/isolation & purification*

Fulltext Human hemoglobin G-Makassar variant masquerading as sickle cell anemia

Mohamad AS, Hamzah R, Selvaratnam V, Yegapan S, Sathar J

Hematol Rep, 2018 Sep 05;10(3):7210.

PMID: 30344984 DOI: 10.4081/hr.2018.7210

Human hemoglobin of G-Makassar variant has been reported very rarely with Beta Thalassemia. In year 1969 Hb GMakassar was first identified in Makassar, Sulawesi (Celebes), Republic of Indonesia. The disease was first published in 1969 and 33 years later it has been reported at a family of Thailand origin. We report a 45-yearold Malay man who was investigated for anemia and thrombocytopenia then diagnosed with Hb G-Makassar. This finding describes as a new Hemoglobin GMakassar discovered in Malaysia after 14 years diagnosed in Thailand.

Matched MeSH terms: Hemoglobins, Abnormal

Southeast Asian Ovalocytosis and Hemoglobinopathies in Newborns: Prevalence, Molecular, and Hematologic Analyses

Yamsri S, Kawon W, Duereh A, Fucharoen G, Fucharoen S

J Pediatr Hematol Oncol, 2021 04 01;43(3):e341-e345.

PMID: 32815885 DOI: 10.1097/MPH.0000000000001920

OBJECTIVES: Southeast Asian ovalocytosis (SAO) is an inherited red blood cell (RBC) membrane disorder, whereas hemoglobinopathies are inherited globin gene disorders. In an area where both diseases are prevalent, the interaction between them resulting in variable hematologic parameters can be encountered. However, little is known about the genetic interaction of SAO and thalassemia. We investigated the prevalence of SAO and hemoglobinopathy genotypes among newborns in southern Thailand.

PATIENTS AND METHODS: This study was carried out on 297 newborns recruited consecutively at Naradhiwas Rajanagarindra Hospital in the south of Thailand. The SAO was identified on blood smear examination and polymerase chain reaction analysis. Thalassemia genotypes were defined. Hematologic parameters and hemoglobin (Hb) profiles were recorded and analyzed.

RESULTS: Among 297 newborns, 15 (5.1%) carried SAO, whereas 70 (23.6%) had thalassemia with 15 different thalassemia genotypes. Abnormal Hb including Hb C, Hb Q-Thailand, and Hb D-Punjab were observed in 5 newborns. It was found in the nonthalassemic newborns that RBC count, Hb, and hematocrit of the nonthalassemic newborns with SAO were significantly lower than those without SAO. The same finding was also observed in the thalassemic newborns; RBC count, Hb, and hematocrit of the thalassemic newborns with SAO were significantly lower than those without SAO. However, the mean corpuscular volume, mean corpuscular Hb, and RBC distribution width of the SAO-newborns were significantly higher.

CONCLUSIONS: Both SAO and hemoglobinopathy genotypes are common in southern Thailand. One should take this into consideration when evaluating neonatal anemia and other hematologic abnormalities. Identification of both genetic defects and long-term monitoring on the clinical outcome of this genetic interaction should be essential to understand the pathogenesis of these common genetic disorders in the region.

Matched MeSH terms: Hemoglobins, Abnormal/analysis; Hemoglobins, Abnormal/genetics

Hb I-High Wycombe [beta 59(E3)Lys----Glu] in a woman of Malian origin

Lacombe C, Arous N, Pontet F, Blouquit Y, Bardakdjian J, Riou J, et al.

Hemoglobin, 1987;11(2):173-6.

PMID: 3114176

Matched MeSH terms: Hemoglobins, Abnormal/analysis*; Hemoglobins, Abnormal/genetics

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