Hb H Disease Diagnosed During Adolescent Pregnancy

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AKSU T., Coskun C., Kuskonmaz B. B., ÜNAL Ş., Aytac Ş. S., GÜMRÜK F.

HEMOGLOBIN, vol.44, no.2, pp.137-138, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 44 Issue: 2
  • Publication Date: 2020
  • Doi Number: 10.1080/03630269.2020.1762642
  • Journal Name: HEMOGLOBIN
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, Chemical Abstracts Core, EMBASE, MEDLINE
  • Page Numbers: pp.137-138
  • Hacettepe University Affiliated: Yes

Abstract

Hb H disease is a moderate to severe form of alpha-thalassemia (alpha-thal). Patients with Hb H disease may become symptomatic, especially during infections and pregnancy, and may require transfusions. Herein, we present a 16-year-old female with Hb H disease who was initially diagnosed during adolescent pregnancy and was found to carry the -alpha(3.7)/-(alpha)(20.5) deletions. The relatively mild presentation of this case highlights the milder phenotypic consequences of deletional alpha mutations. The case describes the screening and management of pregnancy with Hb H disease. Additionally, this case demonstrates that screening of some undiagnosed inherited blood disorders is important during pregnancy.