alexa Transfusion Dependent Homozygous α-Thalassemia in Patients Associated with Hypospadias in Three Survivors | OMICS International | Abstract
ISSN: 2155-9864

Journal of Blood Disorders & Transfusion
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Case Report

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

Syahzuwan Hassan1, Rahimah Ahmad1*, Faidatul Syazlin Abdul Hamid1, Nur Aisyah Aziz1, Syahira Lazira Omar1, Siti Hida Hajira Mohamad Arif1, Aini Salmah Rabiee2, Yeoh Seoh Leng3, Mohd Hishamshah Mohd Ibrahim4 and Zubaidah Zakaria1

1Haematology Unit, Institute for Medical Research, Jalan Pahang, 50588 Kuala Lumpur, Malaysia

2Hospital Bintulu, Jalan Nyabau, 97000 Bintulu, Sarawak, Malaysia

3Jabatan Pediatrik, Hospital Pulau Pinang, Jalan Residensi, 10990 Georgetown, Pulau Pinang, Malaysia

4Institut Pediatrik Hospital Kuala Lumpur, Jalan Pahang, 50586 Kuala Lumpur, Malaysia

*Corresponding Author:
Rahimah Ahmad
Hematology Unit, Institute for Medical Research
Jalan Pahang, 50588 Kuala Lumpur, Malaysia
Tel: +603-2616-2666
Fax: +603-2693-9335
E-mail: [email protected]

Received date: November 24, 2014; Accepted date: January 23, 2015; Published date: January 30, 2015

Citation: Hassan S, Ahmad R, Hamid FSA, Aziz NA,Lazira S, et al. (2015) Transfusion Dependent Homozygous a-Thalassemia in Patients Associated with Hypospadias in Three Survivors. J Blood Disord Transfus 6:248.doi: 10.4172/2155-9864.1000248

Copyright: ©2015 Hassan S, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

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.

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