Serum Vascular Endothelial Growth Factor [VEGF] levels in patients with alpha thalassemia

Background: Alpha-thalassemia syndrome includes a group of hereditary anemia in which expression of alpha globin chains is decreased or absent. Impaired RBC in patients with thalassemia causes vessel involvement and endothelial cell vessel disturbance. Vascular Endothelial Growth Factor [VEGF] is the most important regulator for endothelial cell proliferation. So, the aim of this study is to compare the serum VEGF levels in patients with alpha thalassemia and normal control group

Materials and Methods: This case-control study was conducted on 17 patients with alpha thalassemia and 40 healthy people. Serum VEGF levels were measured by enzyme-linked immune sorbent assay [ELISA] kit. Then statistical analysis of results were performed using SPSS 16, value of P <0.05 was considered statistically significant

Results: Mean serum VEGF levels in case and control groups were 2294.19 +/- 1552.39 and 598.09 +/- 988.17pg/ml, respectively. Serum VEGF levels were higher in patients with alpha thalassemia [P <0.01]. There was no significant correlation between serum VEGF levels and Hemoglobin. [P= 0.73]

Conclusion: Our study revealed that patients with alpha thalassemia have elevated levels of serum VEGF than normal control group. Further studies with larger sample size are recommended to confirm these observations

Thrombin Activatable Fibrinolysis inhibitor Thr 325 Ile polymorphism in fetuses with factor XIII deficient family history and Intracranial hemorrhage

Background: factor XIII Deficiency [FXIIID] is an inherited rare bleeding disorder with some life threatening clinical manifestation including Intracranial Haemorrhage [ICH]. Among all polymorphisms found in FXIIID, Thrombin Activatable Fibrinolysis Inhibitor [TAFI] Thr325Ile gene polymorphism increases probability of ICH about 20 fold in patients with FXIII .So, in this study we aimed to evaluate TAFI Thr 325 Ile polymorphism in Chorionic villus samples [CVS] of fetuses with positive family history of FXIIID and ICH

Materials and Methods: this study was performed on chorionic villus of pregnant mothers ´ with positive history of FXIIID accompanied with ICH in first-degree relatives of their fetus. All parents of the fetuses were completed consent form for doing Prenatal diagnosis [PND]. Chorionic villus DNA was extracted from each sample using the DNA extraction kit and PCR-RFLP was performed for TAFI Thr 325Ile polymorphism in Exon 4 of FXIII A gene

Results: all of 8 fetuses had positive family history of FXIIID. Seven out of eight fetuses [87.5%] had a family member with CNS bleeding due to FXIIID. Four fetuses had history of death due to FXIIID. There were 5 case [62.5%] that were homozygote for TAFI Thr 325 Ile, one [12.5%] was heterozygote and two [25%] were non mutant

Conclusion: detection of TAFI Thr 325 Ile polymorphism by PND program in fetuses with positive family history of ICH is seems necessary and it will help to fill many gaps in preventing life threatening features of FXIIID in newborn at the time of delivery by prophilaxy receiving and precautionary measures

Evaluation of the effect of miR-26b up-regulation on HbF expression in erythroleukemic K-562 cell line

The major hemoglobin in the fetus is hemoglobin F [alpha2gamma2], whereas in adult humans, hemoglobin A [alpha2beta2] is predominately expressed. Several studies have indicated that expression of the HbF subunit gamma-globin might be regulated post-transcriptionally. This could be done by small non-coding RNAs called microRNAs which target mRNAs in a sequence-specific manner and lead to translational repression or mRNA decay. The aim of this study is to evaluate the effect of miR-26b up-regulation on gamma-globin gene expression in K-562 cell line. These cells were grown in RPMI 1640 and pre miR-26b and were transfected within K-562 cell line using lentiviral vector. After RNA extraction and cDNA synthesis in selected days, miRNA up-regulation was confirmed by miRNA real time PCR and then gamma and beta chain and GATA-1 expression were investigated by RT and QRT-PCR. The viability of cells before transfection was 90%. Three and 7 days after transfection, through the use of relative Q-PCR, the gamma chain expression increased 3.7, 6.8 and 3.8 folds and GATA-1 expression increased 2.1, 6.0 and 8.0 in comparison with untransfected cells. The data suggest that miR-26b can be involved in the increase of gamma-globin gene expression in K-562 cell line. We suggest that miR-26b may be a significant therapeutic target for increasing HbF levels in patients with sickle cell disease and beta-thalassemia

Evaluation of liver and kidney function in favism patients

G6PD deficiency is the most common enzymopathy of red blood cells. The clinical symptoms of favism are jaundice, hematuria and haemolytic anaemia that seem to affect liver and kidney in long term. Thus we evaluate kidney and liver function of favism patients in an endemic area of the disease with a high rate of fava beans cultivation. This study was performed on favism patients and healthy controls referring to Iranshahr central hospital. Liver and kidney function tests were performed. The results showed a statistically significant difference between these two groups [p <0.05] for liver function tests, [AST, ALT and ALP], but not for renal tests [BUN and creatinine] [p >0.05]. Due to abnormalities were seen in the liver function tests of these patients, we suggest that these tests be regularly performed for favism patients who are constantly exposed to oxidant agents