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HYDROPS FETALIS ASSOCIATED WITH HOMOZYGOSITY FOR Hb ADANA [α59(E8)Gly→Asp (α2)]
We describe cases of hydrops fetalis associated with nondeletional α-thalassemia (α-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)-ba...
Autores principales: | , , |
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Formato: | Texto |
Lenguaje: | English |
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Informa Healthcare
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2942774/ https://www.ncbi.nlm.nih.gov/pubmed/20642338 http://dx.doi.org/10.3109/03630269.2010.493405 |
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author | Nainggolan, Ita M. Harahap, Alida Setianingsih, Iswari |
author_facet | Nainggolan, Ita M. Harahap, Alida Setianingsih, Iswari |
author_sort | Nainggolan, Ita M. |
collection | PubMed |
description | We describe cases of hydrops fetalis associated with nondeletional α-thalassemia (α-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 α59(E8)Gly→Asp (α2), 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 α-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. |
format | Text |
id | pubmed-2942774 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2010 |
publisher | Informa Healthcare |
record_format | MEDLINE/PubMed |
spelling | pubmed-29427742010-09-21 HYDROPS FETALIS ASSOCIATED WITH HOMOZYGOSITY FOR Hb ADANA [α59(E8)Gly→Asp (α2)] Nainggolan, Ita M. Harahap, Alida Setianingsih, Iswari Hemoglobin Short Communication We describe cases of hydrops fetalis associated with nondeletional α-thalassemia (α-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 α59(E8)Gly→Asp (α2), 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 α-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. Informa Healthcare 2010-08 2010-08-19 /pmc/articles/PMC2942774/ /pubmed/20642338 http://dx.doi.org/10.3109/03630269.2010.493405 Text en Copyright © Informa UK Ltd http://creativecommons.org/licenses/by/2.0/ This is an open access article distributed under the Supplemental Terms and Conditions for iOpenAccess articles published in Informa Healthcare journals (http://www.informaworld.com/mpp/uploads/iopenaccess_tcs.pdf) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Short Communication Nainggolan, Ita M. Harahap, Alida Setianingsih, Iswari HYDROPS FETALIS ASSOCIATED WITH HOMOZYGOSITY FOR Hb ADANA [α59(E8)Gly→Asp (α2)] |
title | HYDROPS FETALIS ASSOCIATED WITH HOMOZYGOSITY FOR Hb ADANA [α59(E8)Gly→Asp (α2)] |
title_full | HYDROPS FETALIS ASSOCIATED WITH HOMOZYGOSITY FOR Hb ADANA [α59(E8)Gly→Asp (α2)] |
title_fullStr | HYDROPS FETALIS ASSOCIATED WITH HOMOZYGOSITY FOR Hb ADANA [α59(E8)Gly→Asp (α2)] |
title_full_unstemmed | HYDROPS FETALIS ASSOCIATED WITH HOMOZYGOSITY FOR Hb ADANA [α59(E8)Gly→Asp (α2)] |
title_short | HYDROPS FETALIS ASSOCIATED WITH HOMOZYGOSITY FOR Hb ADANA [α59(E8)Gly→Asp (α2)] |
title_sort | hydrops fetalis associated with homozygosity for hb adana [α59(e8)gly→asp (α2)] |
topic | Short Communication |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2942774/ https://www.ncbi.nlm.nih.gov/pubmed/20642338 http://dx.doi.org/10.3109/03630269.2010.493405 |
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