Ms. Goncalves et al., MOLECULAR-IDENTIFICATION OF HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN TYPE-2 (HPFH TYPE-2) IN PATIENTS FROM BRAZIL, Annals of hematology, 70(3), 1995, pp. 159-161
The HPFH deletion type 2 was first described in a patient from Ghana a
nd is characterized by a large deletion of approximately 105 kb extens
ion. We report here the results obtained in studying a black Brazilian
patient who presented an association of beta-thalassemia and HPFH typ
e 2, using a PCR strategy for detection of the breakpoint region. This
procedure allows a rapid molecular identification of this condition a
nd is a reliable procedure for screening patients with a hematological
picture of HPFH deletion types.