First report of successful treatment for hemoglobin Bristol-Alesha by hemopoietic stem cell transplantation

Li, Shanshan; Chen, Kai; Huang, Can; Zhang, Na; Jiang, Hui; Jiang, Shuqin

doi:10.1007/s00277-021-04721-7

Cited by 1 publication

(2 citation statements)

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“…The Met residue is subsequently modified to Asp, probably via oxidative mechanisms (10). To the best of our knowledge, only 15 cases of this variant have been reported, all of which were dependent on blood transfusion (Table 1) (8,(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23). According to this case and a previous analysis conducted on Hb Bristol-Alesha, it is always caused by de novo mutations.…”

Section: Discussionmentioning

confidence: 71%

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Case report: Curing a rare, unstable hemoglobin variant Hb Bristol-Alesha using haploidentical hematopoietic stem cell transplantation

et al. 2023

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Unstable hemoglobinopathies are a rare, heterogeneous group of diseases that disrupt the stability of hemoglobin (Hb), leading to chronic hemolysis and anemia. Patients with severe phenotypes often require regular blood transfusions and iron chelation therapy. Although rare, studies have reported that hematopoietic stem cell transplantation (HSCT) seems to be an available curative approach in transfusion-dependent patients with unstable hemoglobinopathies. Here, we describe successful haploidentical HSCT for the treatment of an unstable Hb variant, Hb Bristol-Alesha, in a 6-year-old boy with severe anemia since early childhood. Two years after transplantation, he had a nearly normal hemoglobin level without evidence of hemolysis. DNA analysis showed complete chimerism of the donor cell origin, confirming full engraftment with normal erythropoiesis.

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Section: Discussionmentioning

confidence: 71%

“…Although allogeneic HSCT is the only curative option for severe cases, experience with this procedure is limited. To date, successful cases of HSCT have rarely been reported (21,22,(35)(36)(37)(38). These cases are summarized in Table 2.…”

Section: Discussionmentioning

confidence: 99%