Successful Treatment of a Child with Hemoglobin Hammersmith with Hematopoietic Stem Cell Transplantation
Küçük Resim Yok
Tarih
2023
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Taylor & Francis Ltd
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Hemoglobin (Hb) Hammersmith, formed by serine substitution for phenylalanine at residue 42 in the beta-globin chain, is a very rare variant of unstable hemoglobin with low oxygen affinity. For patients with hemoglobinopathies, it is well-established that hematopoietic stem cell transplantation provides a complete cure, but the literature on its role for those with Hb Hammersmith is limited. A seven-month-old girl who was examined for anemia and splenomegaly was followed up for congenital hemolytic anemia. The patient with visible cyanosis of the lips and whose p50 was low in blood gas was diagnosed with Hb Hammersmith through the DNA sequence analysis. During the follow-up, frequent blood transfusions had to be given due to anemia aggravated by infections. Following a successful hematopoietic stem cell transplant from an HLA-matched sibling, the patient completely recovered from Hb Hammersmith. The case is presented because of its rarity.
Açıklama
Anahtar Kelimeler
Hemoglobin Hammersmith, hematopoietic stem cell transplantation, low oxygen affinity hemoglobin variant, p50, >, Severe Hemolytic-Anemia, Performance Liquid-Chromatography, Unstable Hb Hammersmith, Functional-Properties, Identification, Diagnosis, Mutation
Kaynak
Hemoglobin
WoS Q Değeri
Q4
Scopus Q Değeri
Q3
