ABSTRACT
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
ABSTRACT
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