Poodt Jeroen, Martens Henk A M, Walsh Ita B B, Felix-Schollaart Bente, Hermans Mirjam H A
Multidisciplinary Laboratory for Molecular Diagnostics, Jeroen Bosch Hospital, s-Hertogenbosch, The Netherlands.
Hemoglobin. 2006;30(4):471-7. doi: 10.1080/03630260600868113.
The most common causes of alpha-thalassemia (thal) are deletions that remove a part, or one or both of the functional alpha-globin genes. These deletions cause diminished expression of the alpha-globin protein, which may result in relatively low hemoglobin (Hb) and/or mean corpuscular volume (MCV) values. We here report the identification of a 970 bp deletion in the alpha1-globin gene that encompasses the entire promoter region of the alpha1-globin gene and 26 bp encoding the 5' end of the mRNA. Thus, the affected alpha1-globin gene is prone to be nonfunctional. We therefore nominated the newly identified deletion allele alpha-alphaDelta970. The MCV values of four related carriers of the alpha-alphaDelta970 allele were slightly lowered, consistent with the presence of three functional alpha-globin genes.
