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Hb H disease is a moderate to severe form of α-thalassemia (α-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 -α3.7/-(α)20.5 deletions. The relatively mild presentation of this case highlights the milder phenotypic consequences of deletional α 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.

Citation

Tekin Aksu, Çağrı Coşkun, Barış Kuşkonmaz, Şule Ünal, Selin Aytaç, Fatma Gümrük. Hb H Disease Diagnosed During Adolescent Pregnancy. Hemoglobin. 2020 Mar;44(2):137-138

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PMID: 32400222

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