A case series of alpha-thalassemia intermedia due to compound heterozygosity for Hb Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] with other alpha-thalassemias in Malay families.

Authors: Alauddin, H  Jaapar, NA  Azma, RZ  Ithnin, A  Razak, NF  Loh, CK  Alias, H  Abdul-Latiff, Z  Othman, A 
Citation: Alauddin H, etal., Hemoglobin. 2014;38(4):277-81. doi: 10.3109/03630269.2014.916720. Epub 2014 May 14.
Pubmed: (View Article at PubMed) PMID:24829075
DOI: Full-text: DOI:10.3109/03630269.2014.916720

Hb Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] is a rare hemoglobin (Hb) variant due to a mutation at codon 59 of the alpha2- or alpha1-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, alpha142, 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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CRRD ID: 10755575
Created: 2016-02-02
Species: All species
Last Modified: 2016-02-02
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.