Hb H Disease Diagnosed During Adolescent Pregnancy


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

HEMOGLOBIN, cilt.44, ss.137-138, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 44 Konu: 2
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1080/03630269.2020.1762642
  • Dergi Adı: HEMOGLOBIN
  • Sayfa Sayıları: ss.137-138

Özet

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.