Combined alpha-thalassemia and Hemoglobin J-Iran [beta 77 His --> Asp]. A Family Study in southern Iran

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

Thalassemia, iron and G6PD deficiency in Lor migrating nomad children, Southern Iran

Ferropenia and consequent iron deficiency anemia [IDA], beta-thalassemia, and glucose 6-phosphate dehydrogenase [G6PD] deficiency are three main common hematologic problems in Iran. This study was conducted on the prevalence of these problems in Lor migrating nomads ethnic group in southern Iran. From June to October 2006, the blood samples of 79 Lor migrating nomadic children including 53 [67.1%] male and 26 [32.9%] female were checked for iron indices and G6PD deficiency. The family history of favism, thalassemiaand, signs and symptoms in relation to anemia of participants were evaluated. RBC count, different types of Hb, Hct, MCV, MCH, MCHC, RDW, SI, TIBC and SF were determined immediately after blood sampling. Fourteen [17.7%] children had SF<12 ng/mL while the prevalence of this low serum ferritin was higher in females than males [19.2% vs. 17%]. The low hemoglobin [Hb] level had statistical correlation with the low serum ferritin level. Among all participants, the prevalence of G6PD deficiency was 10.1%, and all of them were male children. The prevalence of beta-thalassemia was 2.5% and all were male. The prevalence of IDA was 17.7%. Although IDA figure is less than those reported in other developing countries [25-35%]; but it shows that Lor tribes in southern Iran are still behind the health status of developed countries [5-8%]. Even the prevalence of beta-thalassemia is not very high, but regarding the devastating potential risk of Cooley's anemia; a careful performance of Iranian thalassemia program is recommended. It seems that G6PD deficiency is prevalent in Lor nomads, so establishment of educational programs and investigation on their dietary habits seem to be a good way to prevent the favism occurrence

[Factor V leiden and prothrombin mutations in south of Iran]

Factor V Leiden and prothrombin mutation are not common but they are involved in pediatric thrombosis. The aim of this study was to evaluate the frequency of factor V Leiden and prohtrombin mutation in healthy population of Shiraz, south of Iran. In this cross-sectional study 195 healthy people [97 female and 98 male] were randomly selected. Peripheral white blood cells obtained from 5 ml blood contained 1-2 mg/ml K[-2] EDTA. Genomic DNA extraction was performed following the protocol described by Miller et al. PCR amplification was carried out in 25 microl reaction volume containing 0.5 units Taq polymerase, 200 micro M dNTP, 500 micro M of each of the previously described primers. After initial denaturation, 35 cycles at 95°C for 30s, and 72°C for 20s and followed extention by 72 for 10 min were performed. About 10 micro l of PDR product was digested with MNI I or Mbo restriction enzymes. In this study we determined factor V Leiden in 8 [4.1%] and prothrombin mutation in 6 individual [3.07%] of 198 cases in heterozygous form. No homozygous was seen for any of the mutations. Only one case presented a double heterozygous for factor V and prothrombin in this cohort. Several studies of factor V leiden and prothrombin mutations in the East of Asia showed the higher frequency of these mutations in Iran