Three cases of Hb Q-H disease found in a Cantonese family.

Abstract

Hemoglobin (Hb) Q-Thailand, also known as G-Taichung, Mahidol, Kurashiki-I and Asabara, is an α-globin chain variant that results from a point mutation (GAC→CAC; Asp→His) at codon 74 of the α1-globin gene on chromosome 16p with a leftward single α-globin gene deletion (-α(4.2)). Co-inheritance of Hb Q-Thailand with α-thalassemia (mainly --(SEA)) results in thalassemia intermedia, termed Hb Q-H disease. The aim of the present study was to identify Hb Q-H disease in a Cantonese family. The presence of the Hb variant was confirmed by cellulose acetate electrophoresis. DNA analysis, based on polymerase chain reaction and sequencing, was developed to identify the α(Q-Thailand) mutation and common α-thalassemia gene deletions. Three cases of Hb Q-H disease and two Hb Q-Thailand carriers were found in the family. The 3-day-old proband with Hb Q-H disease did not show anemia (Hb 144 g/l), having 25.47% Hb F(Q) (α(Q)₂γ₂) in the total Hb; the other two cases of Hb Q-H disease manifested mild-to-moderate anemia. None required regular transfusions.

• Authors: Chaohui Hu, Ling Zhang, Jianghu Pan, Zengyu Zeng, Saixiang Zhen, Ju Fang, Qingyi Zhu
• Journal: Molecular medicine reports (Mol Med Rep) 2011 Mar-Apr Vol. 4 Issue 2 Pg. 279-81 ISSN: 1791-3004 [Electronic] Greece
• PMID: 21468564 (Publication Type: Journal Article)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Q Thailand

Topics

• Adolescent
• Base Sequence
• Child
• China
• Ethnicity (genetics)
• Family
• Female
• Hemoglobins, Abnormal (genetics)
• Humans
• Infant, Newborn
• Male
• Middle Aged
• Molecular Sequence Data
• alpha-Thalassemia (genetics)