Home
Scholarly Works
The First Report of a Homozygous Codons 9/10 (+T)...
Journal article

The First Report of a Homozygous Codons 9/10 (+T) β-Thalassemia Mutation in a Turkish Patient

Abstract

For the first time in Turkey, we report a thalassemic patient with a homozygous codons 9/10 (+T) genotype. Currently, the patient is 3 years and 2 months old and received an initial transfusion at the age of 18 months. After being alloimmunized following this transfusion, he required frequent transfusions, every week to every other week. Although alloimmunization was controlled after methyl-prednisolone, intravenous immunoglobulin, plasmapheresis and rituximab, the transfusion requirements continued related to hypersplenism. Subsequent to splenectomy, transfusion requirements disappeared with average hemoglobin (Hb) levels around 11.0 g/dL. The mother underwent prenatal diagnosis (PND) when she became pregnant for the third time; this revealed a heterozygous codons 9/10 fetus.

Authors

Unal S; Chui DHK; Luo H-Y; Okur H; Oymak Y; Gumruk F

Journal

Hemoglobin, Vol. 39, No. 1, pp. 66–68

Publisher

Taylor & Francis

Publication Date

January 2, 2015

DOI

10.3109/03630269.2014.982255

ISSN

0363-0269

Contact the Experts team