Identification of a novel termination codon mutation (TAA--&gt;TAT, Term-- &gt;Tyr) in the alpha 2 globin gene of a Laotian girl with hemoglobin H disease [letter]

Waye, JS; Patterson, Michael M.; Chui, DH; Olivieri, NF

doi:10.1182/blood.v83.11.3418.3418

Cited by 29 publications

(7 citation statements)

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“…Hb Constant Spring is by far the most common a-chain variant in Southeast Asia [43], while Hb Koya Dora is prevalent in Asian Indian patients [44]. The third termination codon mutation encodes a tyrosine residue at position 142 and was described in a Laotian patient [24]. Mutations at the termination codon abolish MseI or Tru9I cleavage sites; and thus, detection can be achieved with digestion of an amplified az gene [ 171.…”

Section: Asiansmentioning

confidence: 99%

Human α‐Thalassemia syndromes:Detection of molecular defects

et al. 1996

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Section: Asiansmentioning

confidence: 99%

Human α‐Thalassemia syndromes:Detection of molecular defects

et al. 1996

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“…17 The HbCS and HbPS are nondeletional α-thalassemias characterized by 31 additional amino acids in the α-globin chain resulting from point mutations at the stop codon of the α 2 -globin gene. 16,18 The Lao People's Democratic Republic (Lao PDR) is situated in the South East Asian region bordered by Thailand, Vietnam, China, Cambodia, and Burma. The population of the Lao PDR is estimated to be 7 million, comprising of 3 major ethnic groups: the Lao Loum, Lao Theung, and Lao Soung.…”

Section: Introductionmentioning

confidence: 99%

“…HbE results from a single‐base mutation at codon 26 of the β‐globin gene leading to an amino acid change from glutamine to lysine . The HbCS and HbPS are nondeletional α‐thalassemias characterized by 31 additional amino acids in the α‐globin chain resulting from point mutations at the stop codon of the α 2 ‐globin gene …”

Section: Introductionmentioning

confidence: 99%

Molecular prevalence of thalassemia and hemoglobinopathies among the Lao Loum Group in the Lao People’s Democratic Republic

Phanmany

Chanprasert

Munkongdee

et al. 2019

Int J Lab Hematology

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Introduction Thalassemias and hemoglobinopathies are the most prevalent inherited anemias detected in South East Asians. These disorders represent not only a clinical health problem but also a socioeconomic problem for this region. Regarding the prevention and control of thalassemias and hemoglobinopathies in the Lao PDR, screening and diagnostic strategies should be strongly considered. The knowledge about the prevalence and molecular genotyping of thalassemias and hemoglobinopathies among the Lao Loum group, which includes the majority of Lao people, is now limited, making the prevention and control of thalassemias difficult. Methods This study aimed to determine the prevalence of thalassemia among Lao Loum subjects of reproductive age. Multiplex gap PCR and direct sequencing were used to investigate the mutations of α‐globin and β‐globin genes. Results Thalassemias and hemoglobinopathies were detected in 154 of 354 (43.50%) patients, and 22 different genotypes were identified in this cohort. Remarkably, high frequencies of hemoglobin E, α0 –thalassemia (‐‐SEA), and α+ –thalassemia (‐α3.7) were noted. A variety of hematologic features was observed, including co‐inheritance of heterozygous HbE and heterozygous α‐thalassemia, which was associated with significantly lower levels of MCV and MCH values than those observed in typical HbE heterozygotes. Female participants who were heterozygous for β0 or co‐inheritance of heterozygous βE with heterozygous α‐thalassemia exhibited mild anemia. Conclusion Our data show that thalassemias and hemoglobinopathies have become health problems imposing a serious burden in the Lao PDR. Prevention programs aimed at decreasing the incidence of severe thalassemia diseases should be designed and initiated.

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“…Thus, HbCS has an a-thalassemialike effect. More recently, a different terminal codon mutation in the a 2 -globin gene, TAA fi TAT, resulting in an elongated a-chain and causing similar clinical effects, has been described in Laos and Thailand as hemoglobin Pakse (HbPS) (Waye et al, 1994). Co-inheritance of HbCS with a o -thalassemia leads to severe HbH disease that may have clinical manifestation like b-thalassemia major.…”

Section: Introductionmentioning

confidence: 99%

“…Thus, HbCS has an α ‐thalassemia‐like effect. More recently, a different terminal codon mutation in the α 2 ‐globin gene, TAA→TAT, resulting in an elongated α ‐chain and causing similar clinical effects, has been described in Laos and Thailand as hemoglobin Pakse (HbPS) (Waye et al. , 1994).…”

Section: Introductionmentioning

confidence: 99%

Laboratory investigations of Hb Constant Spring

et al. 2005

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Hb Constant Spring (HbCS), a nondeletional alpha-thalassemia, is most prevalent in southern Chinese and southeast Asian populations. In conjunction with alpha-thalassemia-1 or in the homozygous state, it is an important cause of HbH disease. The present study was designed to test the efficiency of different diagnostic methods in detecting HbCS. The following laboratory tests were applied to blood samples from 1000 pregnant women attending an antenatal clinic at Buddhachinaraj Hospital in Phitsanulok, Thailand: mutation specific restriction enzyme digestion (RED), amplification refractory mutation system (ARMS) and automated high-performance liquid chromatography (HPLC). The results demonstrate that the DNA-based methods, RED and ARMS, are efficient diagnostic tools in detecting HbCS in homozygotes and heterozygotes, whereas automated HPLC gave accurate results for homozygous HbCS, but misidentified (no peak) some cases of HbCS trait. Standard hematological methods (determination of mean cell hemoglobin and mean cell volume) did not efficiently differentiate homozygous HbCS and HbCS trait from samples with normal alpha-globin chains. We conclude that RED is the preferable method for HbCS screening and then confirmed diagnostic testing using ARMS. Cases unresolved by ARMS should be clarified by appropriate methods such as DNA sequencing.

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Identification of a novel termination codon mutation (TAA-->TAT, Term-- >Tyr) in the alpha 2 globin gene of a Laotian girl with hemoglobin H disease [letter]

Cited by 29 publications

References 0 publications

Human α‐Thalassemia syndromes:Detection of molecular defects

Human α‐Thalassemia syndromes:Detection of molecular defects

Molecular prevalence of thalassemia and hemoglobinopathies among the Lao Loum Group in the Lao People’s Democratic Republic

Laboratory investigations of Hb Constant Spring

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