Premium
Sickle cell disease due to compound heterozygosity for Hb S and a novel 7.7‐kb β‐globin gene deletion
Author(s) -
Andersson B. Anders R.,
Wering Mikaela E. L.,
Luo HongYuan,
Basran Raveen K.,
Steinberg Martin H.,
Smith Hedy P.,
Chui David H. K.
Publication year - 2007
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.2006.00771.x
Subject(s) - compound heterozygosity , hemoglobinopathy , thalassemia , biology , globin , genetics , polymerase chain reaction , fetal hemoglobin , gene , hemoglobin , microbiology and biotechnology , loss of heterozygosity , mutation , hemolytic anemia , fetus , allele , immunology , pregnancy , biochemistry
A young woman originally from Cape Verde islands presented with mild sickle cell disease. Her blood counts and hemoglobin analysis results initially suggested that she might be either homozygous for the sickle cell hemoglobin (Hb S) with concomitant α‐thalassemia, or compound heterozygous for Hb S and β 0 ‐thalassemia, deletional δ β‐thalassemia or hereditary persistence of fetal hemoglobin (HPFH). We utilized a novel polymerase chain reaction (PCR)‐based screening technique and found a hitherto unrecognized 7.7‐kb deletion, starting from the HBB IVSII to 3′ downstream of the β‐globin gene. This diagnostic approach can be applied to decipher other similar deletional mutations. This is the second known deletion that removes the 3′‐end but preserves the integrity of the 5′‐end of the β‐globin gene. Furthermore, the identification of the deletion allows proper genetic counseling for affected families.