Efficacy of prophylaxis and genotype-phenotype correlation in patients with severe Factor X deficiency in Iran.

We aimed to evaluate the effect of regular prophylaxis with a Factor X (FX) concentrate for patients with severe FXD in Iran and to assess the correlation of the genotype and phenotype in these patients. Ten patients with severe FXD (FX activity <1%) were enrolled and characterized during 2010-2011. Prophylaxis with 20 IU FX P Behring per kg body weight was administered once a week. FX levels, were monitored at baseline, 15 and 30 min, 1, 3, 6, 12, 24, 48, 72 and 96 h after starting prophylaxis. All patients were followed for 1 year. The mean age of the patients was 15 ± 7.8 years (age range of: 6-27 years). One patient had anaphylactic reaction after the first infusion, and the treatment was stopped. During one-year follow-up after starting prophylaxis, no bleeding symptoms occurred in any patient who tolerated and remained on the prophylaxis programme and all of them had a FX level of 1% or above. The maximum level of FX activity has been observed at 15 min after starting prophylaxis. A level of 1.5-3.5% was detected after 96 h. Homozygous mutations p.Arg40Thr (Arg-1Thr), p.Gly51Arg and p.Glu69Lys were detected in patients with intracranial haemorrhage. In our patients, significant decrease in symptoms without any complication after administration of FX, was demonstrated in all except one patient who had an anaphylactic reaction. It seems that the dose of 20 IU kg(-1) could be probably the best choice for patients with severe FXD, who require regular prophylaxis.

Combined α-thalassemia and Hemoglobin J-Iran (ß77 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 ß77 led to a higher negative charge of the ßJ-Iran subunit, which enhanced its electrostatic attraction for the normal positively-charged α subunit. Therefore, more Hb J-Iran than Hb A forms in the red blood cells of heterozygotes. In α-thalassemia, the more attractive ßJ-Iran subunit outcompetes ßA subunits in forming assemblies with deficient α subunits, so even more Hb J-Iran was formed.

Frequency of afterload homocysteinemia in normal population of Southern Iran: a pilot study.

The objectives of the present pilot study were to investigate the effect of an oral methionine load on plasma homocysteine in healthy subjects southern Iran. We studied 50 peoples (10 men, 40 women, median age 27.5, range 20-37) referred to screening center for marriage since different part of southern Iran. Methionine (0.1 g kg(-1) b.wt.) was immediately administrated orally in 200 mL of orange juice and a second blood was obtained 4 h later. Plasma level of homocysteine was carried out by high performance liquid chromatography and flumetric detection. A homocysteine level above 15 mmol L(-1) was considered high. The mean fasting and afterload homocysteine were 15.28 and 31.29 micromol L(-1), respectively. Fasting hyperhomocysteinemia (>15 micromol L(-1)) was detected in 12% of male and 8% in female which significantly higher in men than women (p < 0.0001). Afterload methionine load homocysteine levels (> 31 micromol L(-1)) was detected in 16% of male and 14%in female which higher in men than women. Notably 80% of participants had normal total homocystein concentration (< or = 15 micromol L(-1)), but mild and moderate hyperhomocysteinemia was detected in 24% (n = 12). In this study, we find the difference between fasting and methionine afterload mean homocystein levels (p = 0.000), in 8% of those normal homocystein level, methionine afterload homocystein levels became abnormal. In conclusion, based on results, we recommend the methionine afterload homocystein levels in high risk cases with normal fasting level in order to unmissed some cases with normal basal homocystein level.