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

Front Immunol. 2023 Jun 30:14:1188058. doi: 10.3389/fimmu.2023.1188058. eCollection 2023.

Abstract

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.

Keywords: Hb Bristol-Alesha; haploidentical; hematopoietic stem cell transplantation; hemolytic anemia; unstable hemoglobinopathy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blood Transfusion
  • Child, Preschool
  • Hematopoietic Stem Cell Transplantation*
  • Hemoglobinopathies* / genetics
  • Hemoglobinopathies* / therapy
  • Hemolysis
  • Humans
  • Male

Substances

  • hemoglobin Bristol

Grants and funding

This study is supported by the Capital Characteristic Clinic Project of China (Grant No. Z181100001718032) and Beijing E-Town Cooperation & Development Foundation (Grant No. YCXJ-JZ-2022-007).