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SHORT COMMUNICATION HYDROPS FETALIS ASSOCIATED WITH HOMOZYGOSITY FOR Hb ADANA [a59(E8)Gly®Asp (a2)]

By Hydrops I. M, Nainggolan Fetalis, Ita M. Nainggolan, Alida Harahap, Iswari Setianingsih and Hydrops Fetalis

Abstract

� We describe cases of hydrops fetalis associated with nondeletional a-thalassemia (a-thal), in three unrelated Indonesian families. The genotypes of the fetuses and their parents were generated by DNA sequencing and by a polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP)-based method to rapidly identify mutations detected by sequencing. Two of the fetuses had hydrops fetalis and homozygous a59(E8)Gly®Asp (a2), also known as Hb Adana. The third fetus was also suspected to be homozygous for Hb Adana because both parents were carriers of this mutation. This study shows that homozygosity for Hb Adana is associated with hydrops fetalis in the Indonesian population. We discuss this mutation and its various phenotypes including compound heterozygosity with other a-thal mutations and describe a simple approach to genetic testing that will clarify the risk of hydrops fetalis in the offspring of couples carrying this nondeletional mutation

Topics: α-Thalassemia (α-thal, Hb Adana [α59(E8)Gly→Asp (α2, Molecular diagnosis In Southeast Asia, homozygosity for Southeast Asian-type α 0-thalassemia
Year: 2010
OAI identifier: oai:CiteSeerX.psu:10.1.1.352.699
Provided by: CiteSeerX
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