Hydrops fetalis associated with homozygosity for Hb Adana [alpha59(E8)Gly-->Asp (alpha2)].

Hemoglobin
Ita M NainggolanIswari Setianingsih

Abstract

We describe cases of hydrops fetalis associated with nondeletional alpha-thalassemia (alpha-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 alpha59(E8)Gly-->Asp (alpha2), 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 alpha-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.

References

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Jul 29, 2009·Journal of Pediatric Hematology/oncology·Asude Alpman DurmazFerda Ozkinay

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Citations

Mar 8, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Renzo Galanello, Antonio Cao
May 21, 2011·Blood Reviews·Barbara J Bain
Oct 16, 2015·Blood Cells, Molecules & Diseases·Samaneh Farashi, Hossein Najmabadi
Oct 25, 2014·Hemoglobin·Tekin AksuBahattin Tunç
Nov 23, 2013·Hemoglobin·Jianpei FangSuqin Chen
Nov 9, 2017·Hemoglobin·Hua JiangDong-Zhi Li
May 12, 2018·Pediatric Blood & Cancer·Sharon A SinghDavid H K Chui

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Methods Mentioned

BETA
PCR
electrophoresis

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