Interpreting elevated fetal hemoglobin in pathology and health at the basic laboratory level: new and known γ- gene mutations associated with hereditary persistence of fetal hemoglobin

Heterocellular hereditary persistence of

Heterocellular hereditary persistence of fetal hemoglobin (HPFH). Molecular mechanisms of abnormal γ-gene expression in association withβthalassemia and linkage relationship with theβ-globin gene cluster

✍ A. Giampaolo; F. Mavilio; N. M. Sposi; A. Carè; A. Massa; L. Cianetti; M. Petrin 📂 Article 📅 1984 🏛 Springer 🌐 English ⚖ 663 KB

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