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.

Autor: Alauddin H; Haematology Unit, Department of Pathology, Universiti Kebangsaan Malaysia Medical Centre , Kuala Lumpur , Malaysia ., Jaapar NA, Azma RZ, Ithnin A, Razak NF, Loh CK, Alias H, Abdul-Latiff Z, Othman A
Jazyk: angličtina
Zdroj: Hemoglobin [Hemoglobin] 2014; Vol. 38 (4), pp. 277-81. Date of Electronic Publication: 2014 May 14.
DOI: 10.3109/03630269.2014.916720
Abstrakt: Hb Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] is a rare hemoglobin (Hb) variant due to a mutation at codon 59 of the α2- or α1-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, α142, Term→Gln, TAA>CAA; HBA2: c.427 T>C) (α(codon 59)α/α(CS)α), were compared phenotypically with another two siblings carrying the Hb Adana mutation and a 3.7 kb deletion (α(codon 59)α/-α(3.7)). Although they all had α-thalassemia intermedia (α-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.
Databáze: MEDLINE
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