Elucidating the spectrum of alpha thalassemia mutations in iran

Cases with unknown molecular defects were investigated further by direct gene sequencing.Finally, further study was done for probable unknown deletions by gene dosage analysis using real-time PCR.Correspondence Fakher Rahim E-mail: [email protected]* Received for Publication: September 17, 2007 * Revision Accepted: November 3, 2007 Iranian population is a mixture of different ethnic groups, frequency and distribution of α-globin mutations in various regions of the country need to be clarified.

Our data suggest that variants of the hemochromatosis-transferrin receptor system have no direct effect on the incidence of breast cancer in Germany.

Possible effects on tumor progression and prognosis remain elusive.....

In general the anemia is both dyserythropoietic as well as hemolytic.

In some, like Hb S the cause is apparent as lowering of oxygen tension leads to a process known as sickling of the red cells making them more susceptible to destruction by the spleen.

In 21 out of 29 unknown cases (72.4%), the assay showed various patterns of deletions in at 2 to 5 screened regions (θ gene up to the upstream of alpha2 gene).

In 8 (27.6%) cases, deletions were seen in all regions.Although iron deficiency is the other explanation for a low MCV or MCH, it is likely that this finding will point to thalassemia in regions of countries with at-risk ethnic populations.There are several causes of the anemia produced by different abnormal hemoglobins.The importance of α-thalassemia detection is mainly due to its shared blood parameters with beta-thalassemia and its impact on discrimination between unknown α-thalassemia and normal Hb A2 beta-thalassemia during thalassemia prevention program.and point mutation including 5nt, Constant Spring (CS), and C19 were checked using either GAP-PCR or ARMS-PCR.Two polymorphisms, coagulation factor XIII (FXIII) Val34Leu and plasminogen activator inhibitor 1 (PAI-1) 4G/5G, interfere with fibrin cross-linking and regulation of fibrinolysis and may therefore contribute to early pregnancy loss...

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