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Abstract

Transfusion Dependent Homozygous α-Thalassemia in Patients Associated with Hypospadias in Three Survivors

Syahzuwan Hassan, Rahimah Ahmad, Faidatul Syazlin Abdul Hamid, Nur Aisyah Aziz, Syahira Lazira Omar, Siti Hida Hajira Mohamad Arif, Aini Salmah Rabiee, Yeoh Seoh Leng, Mohd Hishamshah Mohd Ibrahim and Zubaidah Zakaria

Alpha-thalassemia results from a dysfunction of the α-globin gene. Types of mutations include large deletions and point mutations. The most severe form of α-thalassemia is hydrops fetalis, which is caused by homozygosity of certain types of either deletion or point mutations, and some cases were the results of a combination of both. Here, we describe three cases of homozygous α-thalassemia who continue to survive, all with hypospadias. The first two cases were 5-year-old twins that were diagnosed with homozygous SEA deletion and the first description of a 20- month-old child with the genotype of the homozygous Cd 59 (GGC>GAC) mutation of the HBA2 gene. Prognoses for any α-thalassemia mutation types that are known to lead to hydrops fetalis in male fetuses should be informed about the potential survival associated with hypospadias.