Successful Treatment of a Child with Hemoglobin Hammersmith with Hematopoietic Stem Cell Transplantation
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Date
2023
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Abstract
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. © 2023 Informa UK Limited, trading as Taylor & Francis Group.
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Anemia, Hemolytic , Child , Female , Hematopoietic Stem Cell Transplantation , Hemoglobinopathies , Hemoglobins, Abnormal , Humans , Infant , bilirubin , cyclosporine , folic acid , hemoglobin , hemoglobin A , hemoglobin A2 , hemoglobin F , methotrexate , oxygen , steroid , treosulfan , zinc , hemoglobin Hammersmith , hemoglobin variant , acute graft versus host disease , acute skin graft versus host disease , acute skin graft versus host disease , allele , allogeneic hematopoietic stem cell transplantation , anemia , Article , basophilic stippling , case report , chimera , clinical article , cyanosis , erythrocyte transfusion , erythropoiesis , female , follow up , graft failure , graft versus host reaction , growth retardation , hemoglobin blood level , hemoglobin hammersmith , hemoglobinopathy , hemolytic anemia , high performance liquid chromatography , high throughput sequencing , human , infant , lung alveolus oxygen tension , mean corpuscular hemoglobin , mean corpuscular hemoglobin concentration , mean corpuscular volume , myeloablative conditioning , neutrophil , parental consent , pulse oximetry , red blood cell distribution width , reticulocyte , risk reduction , spleen , splenectomy , splenomegaly , steroid therapy , child , genetics , hematopoietic stem cell transplantation , hemoglobinopathy , hemolytic anemia