PMID: 15921165Jun 1, 2005

Molecular and clinical features of Hb H disease in northern Thailand

Hemoglobin
Pimlak CharoenkwanT Sanguansermsri

Abstract

Clinical assessment, hematological studies and molecular analyses were performed in 102 pediatric patients with Hb H disease in northern Thailand. A total of six mutations of the alpha-globin gene, which produced five genotypes, were detected. All patients had an alpha(0)-thalassemia (thal) deletion on one chromosome 16. All but one of these were of the South East Asian type (--SEA); one patient had the THAI deletion (--THAI). The deletional alpha(+)-thal mutations comprised 3.7 kb (-alpha(3.70) and 4.2 kb (-alpha(4.2)) deletions which were found in 34 (33.3%) and 10 (9.8%) alleles, respectively. The nondeletional alpha(+)-thal mutations comprised 55 (53.9%) alleles of Hb Constant Spring (CS) (alpha142, TAA --> CAA) and three (2.9%) alleles of Hb Pakse (alpha142, TAA --> TAT). Six patients with Hb H-CS disease also carried Hb E (AEBart's CS disease). The clinical features were diverse and the nondeletional genotypes were associated with more severe clinical and hematological features, including younger age at presentation, larger size of liver and spleen, lower hemoglobin (Hb) level, and higher transfusion requirements. The high proportion of nondeletional Hb H disease observed in this study was inconsistent with the previously...Continue Reading

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Citations

Dec 21, 2010·The Journal of Pediatrics·Alex R KemperJames M Perrin
Mar 13, 2010·Prenatal Diagnosis·Supatra SirichotiyakulT Sanguansermsri
Mar 25, 2017·Annals of Hematology·Pacharapan SurapolchaiChi-Chiu So
Jan 19, 2018·Laboratory Medicine·Sakorn PornprasertKallayanee Treesuwan
Dec 14, 2006·Journal of Pediatric Hematology/oncology·Pimlak CharoenkwanT Sanguansermsri
Apr 25, 2009·Annals of Hematology·V LaosombatBenjamas Sattayasevana
Feb 25, 2011·The New England Journal of Medicine·Ashutosh LalElliott P Vichinsky

Related Concepts

Chromosomes, Human, Pair 16
DNA Mutational Analysis
Hemoglobin E
Hemoglobin H
Abnormal Hemoglobins
Alpha-Thalassemia
Point Mutation

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