ABSTRACT
Background@#Rare bleeding disorders include inherited coagulation disorders except for von Willebrand disease and hemophilia A and B. These disorders affect both men and women worldwide and mainly have an autosomal recessive pattern of inheritance. Given the paucity of cases of rare bleeding disorders, there are limited data regarding some topics among bleeding disorders. @*Methods@#This retrospective study from 2005‒2019 collected demographic data and the causes of death among cases with rare bleeding disorders from 2 provinces of Iran. @*Results@#Overall, 5 deaths were reported, including 3 cases with factor V deficiency, a case with factor XIII deficiency, and a case with combined factor V and factor VIII deficiencies. The main causes of death were bleeding in the central nervous system (2 cases; 1 with factor V deficiency and 1 with combined factor XIII deficiency). Post-partum hemorrhage was the cause of death in a woman with factor V deficiency while anaphylaxis shock was the cause of death in the case with combined factor V and factor VIII deficiencies. A woman with factor V deficiency died from an internal bleeding episode. @*Conclusion@#Gathering data on the causes of death in rare bleeding disorders through worldwide registries can be helpful for the management of this rare group of bleeding disorders.
ABSTRACT
Background@#Rare bleeding disorders include inherited coagulation disorders except for von Willebrand disease and hemophilia A and B. These disorders affect both men and women worldwide and mainly have an autosomal recessive pattern of inheritance. Given the paucity of cases of rare bleeding disorders, there are limited data regarding some topics among bleeding disorders. @*Methods@#This retrospective study from 2005‒2019 collected demographic data and the causes of death among cases with rare bleeding disorders from 2 provinces of Iran. @*Results@#Overall, 5 deaths were reported, including 3 cases with factor V deficiency, a case with factor XIII deficiency, and a case with combined factor V and factor VIII deficiencies. The main causes of death were bleeding in the central nervous system (2 cases; 1 with factor V deficiency and 1 with combined factor XIII deficiency). Post-partum hemorrhage was the cause of death in a woman with factor V deficiency while anaphylaxis shock was the cause of death in the case with combined factor V and factor VIII deficiencies. A woman with factor V deficiency died from an internal bleeding episode. @*Conclusion@#Gathering data on the causes of death in rare bleeding disorders through worldwide registries can be helpful for the management of this rare group of bleeding disorders.
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
ABSTRACT
Background and Aims: it is believed that uremia causes destruction of white blood cells [WBC] leading to leukopenia. This study attempted to assess the exact effect of uremia on WBC count
Materials and Methods: this case-control study was conducted on 120 uremic patients and 100 non-uremic control subjects. All cases were examined for determination of urea and creatinine in their serum; complete blood counts were also determined
Results and Conclusion: in healthy male individuals, the mean values of serum urea and creatinine were 14.5+/-1.9 and 0.9+/-0.2 mg/dL, respectively. In females the serum urea concentration was the same as males, but mean serum creatinine was 0.66+/-3.2 mg/dL. In the patients group, the mean concentration of serum urea for both sexes was 83+/-2.4 mg/dL. The mean values of creatinine in male and female patients were 2.4+/-1.3 mg/dL and 2.1+/-1.7 mg/dL, respectively. The mean total leukocyte counts in case and control groups were 6.08+/- 2.24 and 6.17+/- 2.43 ×10[9]/L, respectively [p=0.71]. Our results indicate that uremia cannot change leukocyte count
ABSTRACT
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
ABSTRACT
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
ABSTRACT
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