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

Prevalence of diabetes and impaired glucose tolerance test in patients with Thalassemia major

Diabetes is one of the most common endocrine disorder worldwide that due to high prevalence and chronic nature of diabetes imposes a heavy cost on health care system. Therefore this study aimed to assess prevalence of diabetes among patients with beta thalassemia major. This descriptive study was conducted on 364 patients with beta thalassemia major that received at least 100 blood bags. For evaluation of diabetes among these patients, fasting blood sugar and glucose tolerance test were done. Finally relationship between age, gender, age at beginning of transfusion and chelating therapy with occurrence of diabetes were analysis by SPSS-17 software. Among 364 patients with mean age of 17.7 +/- 4.9 years prevalence of diabetes was 15.1% [58 patients] that 37.9% [22 patients] were women and 62.1 [38 patients] were men. Due to high prevalence of diabetes in patients with beta thalassemia major, regular check up for endocrine disorders should be consider in these patients

Acute lymphoblastic leukemia in two patients with beta-Thalassemia major

Occurrence of leukemia in thalassemia major is a rare presentation. Here we report two cases of thalassemic patients, developing acute lymphoblastic leukemia. The genetic analysis revealed that, female and male patients were homozygous for IVSI-6 and IVSI-5, respectively. Two years ago the female patient presented by a high leukocyte count [154,000 micro L] and male one also presented by 80,000 WBC/micro L count 1 year ago. Microscopic examination of both patients revealed lymphoblasts that morphologically accommodate with ALL-L1 that were confirmed by photocytometry

Prevalence of alloimmunization against RBC antigens in thalassemia major patients

Regular blood transfusions to treat the patients with thalassemia major generate antibodies acting against red blood cells antigens. This immune response is called alloimmunity. This study was conducted with the purpose of determining the prevalence of alloantibodies and autoantibody, identifying the type of causative antigen, and recognizing the factors affecting alloimmunization among the patients with thalassemia major receiving blood. In this cross-sectional study, 385 patients with thalassemia major participated. After recording their demographic information, serum specimens taken from the patients were screened using pooled cells obtained from Biorad Company. The positive cases were examined to identify antibodies using panel cells obtained from Iranian Blood Transfusion Organization. In this study, SPSS 16 was employed for performing statistical analysis. Of the 385 patients, 69 subjects [17.9%] comprising 221 men and 164 women had alloantibody. In 57 cases, the antibody type was exactly identified. In 21 patients [5.5%] the existence of autoantibody was determined. The mean ages of the participants were within 14.3 +/- 7.5 and 13.3 +/- 7.9 years old for male and female groups, respectively. 28 patients had splenectomy and age at the onset of blood transfusion ranged from a month after birth to nine years4T. In these patients, the most significant blood group systems acted by alloantibodies were Rh and Kell. Since the results of this study show 17.9% incidence of alloimmunization in these patients, it is recommended to carry out injected blood compatibility test [cross-match] after antibody screening

Kidney function tests in children with beta-thalassemia minor in Zahedan, Southeast of Iran

There is little information regarding kidney function in patients with beta-thalassemia minor. In this study we investigated kidney function tests in 50 children with beta-thalassemia minor [22 boys and 28 girls]. Twenty-four-hour urine samples were collected and analyzed for sodium, potassium, calcium, magnesium, creatinine, phosphate, uric acid, protein, and beta 2-microglobulin. Blood samples were obtained for hematologic and biochemical analyses including complete blood count, serum ferritin, sodium, potassium, calcium, phosphate, magnesium, creatinine, and uric acid. This group of children with beta-thalassemia showed some evidence of tubulopathy such as proteinuria [32%], beta 2-microglobulin excretion [36%], calciuria [4%], phosphaturia [4%], and uricosuria [20%]. Our findings support the existence of renal tubular dysfunction in beta-thalassemia minor. However, further studies in large series are needed to shed light on the possible relation of these two distinct diseases