A Case Series of α-Thalassemia Intermedia Due to Compound Heterozygosity for Hb Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] With Other α-Thalassemias in Malay Families

被引：9
作者：
Alauddin, Hafiza [1 ]
Jaapar, Noor-Adilah [1 ]
Azma, Raja Z. [1 ]
Ithnin, Azlin [1 ]
Razak, Noor-Farisah A. [2 ]
Loh, C-Khai [3 ]
Alias, Hamidah [3 ]
Abdul-Latiff, Zarina [3 ]
Othman, Ainoon [4 ]
机构：
[1] Univ Kebangsaan Malaysia, Haematol Unit, Dept Pathol, Med Ctr, Kuala Lumpur 56000, Malaysia
[2] Univ Kebangsaan Malaysia, Diagnost Med Lab Dept, Med Ctr, Kuala Lumpur 56000, Malaysia
[3] Univ Kebangsaan Malaysia, Dept Paediat, Med Ctr, Kuala Lumpur 56000, Malaysia
[4] Univ Sains Islam, Dept Med Sci 2, Fac Med & Hlth Sci, Nilai, Malaysia
来源：
HEMOGLOBIN | 2014年 / 38卷 / 04期
关键词：
-alpha(3.7); - -(SEA); Codon; 59; mutation; Hb Adana; Hb Constant Spring (Hb CS); ALPHA(+)-THALASSEMIA DELETION; PHENOTYPES; DISEASE; VARIANT;
D O I：
10.3109/03630269.2014.916720
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Hb Adana [HBA2: c179G>A ( or HBA1); p. Gly60Asp] is a rare hemoglobin ( Hb) variant due to a mutation at codon 59 of the alpha 2- or alpha 1-globin gene resulting in a glycine to aspartic acid substitution. Two siblings with a unique coinheritance of Hb Adana and Hb Constant Spring (Hb CS, alpha 142, Term -> Gln, TAA>CAA; HBA2: c.427 T>C) (alpha(codon) (59)alpha/alpha(CS)alpha), were compared phenotypically with another two siblings carrying the Hb Adana mutation and a 3.7 kb deletion (alpha(codon) (59)alpha/-alpha(3.7)). Although they all had alpha-thalassemia intermedia ( alpha-TI), the former were clinically more severe than the latter. The first pair of siblings presented at a much younger age than the second pair and showed lower Hb levels and significant extramedullay hemopoiesis. Another case of a hydropic fetus as a result of Hb H/Hb Adana is also described. Their clinical phenotypes and hematological parameters are all presented for comparison.
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页码：277 / 281
页数：5
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