Identical Mutations in the Paralogous Human γ-Globin Genes Leading to Hemoglobin Variants and Nondeletional Hereditary Persistence of Fetal Hemoglobin
✍ Scribed by Papachatzopoulou, Adamantia; Patrinos, George P.
- Book ID
- 121862148
- Publisher
- Informa plc
- Year
- 2011
- Tongue
- English
- Weight
- 710 KB
- Volume
- 35
- Category
- Article
- ISSN
- 0363-0269
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Some types of nondeletional heterocellular hereditary persistence of fetal hemoglobin (HPFH) appear to be caused by mutations in the beta globin gene cluster near the gamma globin genes, while in other cases the condition is associated with a gene or genes outside the beta globin gene complex. We ha
We report a study of four families of Italian origin in which heterocellular HPFH is inherited linked to beta thalassemia over two or three generations. The HPFH + beta thalassemia carriers showed thalassemic blood pictures and elevated HbF and F-cell number without increase in the HbF/F-cell conten