Fetal heterozygosity for both Hb G-Hsi-Tsou and beta thalassemia: A case report.
Beta thalassemia
Case report
Compound heterozygosity
Hb Hsi-Tsou
Pregnancy
Journal
Case reports in women's health
ISSN: 2214-9112
Titre abrégé: Case Rep Womens Health
Pays: Netherlands
ID NLM: 101682122
Informations de publication
Date de publication:
Oct 2020
Oct 2020
Historique:
received:
07
10
2020
revised:
12
10
2020
accepted:
14
10
2020
entrez:
9
11
2020
pubmed:
10
11
2020
medline:
10
11
2020
Statut:
epublish
Résumé
This case report describes a fetus with compound heterozygosity for Hb G-Hsi-Tsou and beta thalassemia, diagnosed in a healthy pregnancy. To the best of our knowledge, this is the first documented case of compound heterozygosity and the woman is the second known case of heterozygosity for Hb G-Hsi-Tsou. A 34-year-old woman during her first pregnancy underwent hemoglobin electrophoresis which revealed heterozygosity for Hb G-Hsi-Tsou. Hemoglobin G-Hsi-Tsou constitutes a hemoglobin variant with a structural abnormality of the beta chain, first described in 1972, but since then no other cases have been reported. After finding out that her husband was heterozygous for beta thalassemia, chorionic villus sampling revealed the embryo's heterozygosity for both Hb G-Hsi-Tsou and beta thalassemia. Due to lack of scientific data, the couple decided to end the pregnancy. It was not possible to determine whether the fetus would present serious deficiencies in hematopoiesis, as Hb G-Hsi-Tsou is a variant which is not yet fully understood. What made this case even more complex was the simultaneous presence of the beta thalassemia allele.
Identifiants
pubmed: 33163367
doi: 10.1016/j.crwh.2020.e00265
pii: S2214-9112(20)30095-3
pmc: PMC7607242
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e00265Informations de copyright
© 2020 The Authors.
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