Clinical and Biochemical Heterogeneity in Hemoglobin H Disease: A Comprehensive Analysis of α-Globin Mutations and Transfusion Requirements

نویسندگان
saniei, Elaheh ID 1
Abolghasemi, Hassan ID 2
Karimipoor, Morteza ID 3
H. Issa, Abdulkareem ID 4
Azarkeivan, Azita ID 5

1 Department of chemistry and biochemistry, college of medicine, Mustansiriyah University, Baghdad, Iraq.

2 Department of Pediatrics, Baqiyatallah University of Medical Sciences, Tehran, Iran

3 Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran

4 Department of chemistry and biochemistry, college of medicine, Mustansiriyah University, Baghdad, Iraq.

5 Iranian Blood Transfusion Organization (IBTO), High Institute for Research and Education in Transfusion Medicine, Thalassemia Clinic, Tehran, Iran.

doi
چکیده

Background: Hemoglobin H (Hb H) disease, a subtype of α-thalassemia, demonstrates marked clinical heterogeneity primarily driven by underlying genotypic differences. While non-deletional mutations are typically associated with more severe phenotypes, considerable variability is observed even among patients with similar mutation classes. This study aimed to examine genotype–phenotype correlations in Hb H disease by ...

کلیدواژه‌ها
Alpha-Thalassemia, Alpha-Globins, Mutation