Multiple minisequencing screen for seven Southeast Asian nondeletional α-thalassemia mutations

10.1373/49.5.800Clinical Chemistry495800-803CLCH

Single-tube multiplex-PCR screen for anti-3.7 and anti-4.2 α-globin gene triplications

10.1373/49.10.1679Clinical Chemistry49101679-1682CLCH

Diagnostic pitfall in PCR-based α-thalassemia genotyping resulting from a (G→C) polymorphism at nucleotide 71 3′ to the α2-globin gene termination codon [2]

10.1373/clinchem.2005.062547Clinical Chemistry523536-53

NEW AND KNOWN beta-THALASSEMIA DETERMINANTS MASKED BY KNOWN AND NEW delta GENE DEFECTS [Hb A(2)-Ramallah OR delta 6(A3)Glu -> Gln, GAG >> CAG]

We report a novel thalassemia determinant found in a Nigerian woman living in the Netherlands, resulting from a 2 bp insertion at codons 9/10 of the beta-globin gene (HBBc.28_29ins TA p. Ser10LeufsX11). The novel defect causes a frameshift with a consequent premature TGA stop codon, located at 11 positions downstream from the mutated codon. The phenotype was typical of a beta-thalassemia (beta-thal), trait with high RBC counts and compensated mild microcytic anemia. However, the Hb A(2) level was reported to be normal due to the presence of the common Hb A(2)' or Hb B2 [delta 16(A13)Gly-->Arg, GGC>CGC] variant that was not taken into account. We also present the opposite but comparable situation found in an a Palestinian man living in the USA. He was a carrier of a common beta-globin gene defect [codon 6 (-A), HBB:c.20delA] in combination with a novel delta-globin gene defect at codon 6 [HBD.c.19G>C, Glu6Gln] that we have named Hb A(2)-Ramallah. In both cases, the provisional diagnosis could have been compromised when based on the measurement of the normal Hb A(2) fraction only.Genetics of disease, diagnosis and treatmen

Determining the cause of patchwork HBA1 and HBA2 genes: Recurrent gene conversion or crossing over fixation events

Haematologica913297-30