ABSTRACT
We report a 23-year-old man and three members of his family with Hb J-Iran confirmed by electrophoresis, chain separation by high performance liquid chromatography and sequencing. Alpha thalassemia was also confirmed in two family members. The substitution at beta 77 led to a higher negative charge of the beta J-Iran subunit, which enhanced its electrostatic attraction for the normal positively-charged alpha subunit. Therefore, more Hb J-Iran than Hb A forms in the red blood cells of heterozygotes. In alpha -thalassemia, the more attractive beta J-Iran subunit out-competes beta A subunits in forming assemblies with deficient alpha subunits, so even more Hb J-Iran was formed
ABSTRACT
Leptin, is a adipocyte-derived hormone. Exogenous leptin allows the recovery of the reproductive function. In humans, leptin correlates positively with body mass index [BMI]. The aim of the study was to investigate the association of leptin with toxic effects of iron overload. In a cross sectional study in 2006, we compared the serum leptin level of thalasemic patients with normal group. Blood samples were collected from 219 patients with Cooley's anemia, [119 males, 100 females] and 137 normal subjects [86 males, 51 females]. Leptin was measured by a commercial ELISA kit. Data were analyzed by SPSS software. Mean serum leptin level was 5.33 +/- 5.02 ng/ml in thalassaemic males. It was significantly lower than controls [9.43 +/- 7.8 ng/ml] [P<0.001]. Thalassaemic females had lower leptin levels [12.12 +/- 11.4 ng/ml] than normal females subjects [14.6 +/- 13.1 ng/ml] [P<0.001]. Furthermore, the physiologically positive BMI/leptin relationship disappeared in thalassaemic patients. It seems that the adipocytes of thalassaemic patients are unable to maintain adequate leptin production. These results suggest that adipose tissue dysfunction can be considered as one of the endocrinepathies affecting thalassaemic patients