Inherited Bleeding Disorders in Iraq and Consanguineous Marriage

Abstract

Background: Consanguineous marriage is defined as inbreeding between second cousins or closer. In such families there will be a potential increase in the autosomal recessive traits with its lethal effect, with an increased risk of morbidity and mortality in the new generation. Inherited bleeding disorders (InBDs) are rare complicated diseases, difficult and expensive to treat, the defect usually due to quantitative or qualitative deficiency of clotting factors, platelets or fibrinolysis. This study attempts to assess the diversity, the frequency and the clinical features of inherited bleeding disorders (InBDs) in central part of Iraq and to determine the state of consanguineous marriage. Materials and Methods: This is a prospective cross-sectional study conducted in the National Center of Hematology NCH, Baghdad, Iraq between June2014 and June 2017. In total, 256 pediatrics and adult patients were included. Full bleeding history, family history, drug history and consanguineous marriage were recorded and followed by medical examination. First-line laboratory tests were performed and then were followed by further tests included mixing study, lupus anticoagulant testing, clotting factor activity assay, von Willebrand Antigen (VW: Ag), Ristocetin co factor vWF: RiCoF activity and platelet function test. Results: The range of age was from 1 month to 57 years, with mean age 8.424±8.623 years and median age of 6.5years. The male to female ratio was 1.1:1. The most common age group was in the range of 1-10 years (46.45%). Family history was positive in 55.07% of patients (P >0.05). The consanguinity was found in 76.95% of the families studied (P <0.0001). The most prevalent InBD was von Willebrand disease (42.98%) with majority type 3VWD (86.4%). The second most prevalent was thrombasthenia (36.71%) and the majority had Glanzmann’s thrombosthenia (86.2%). Rare bleeding disorders (RBDs) were observed in 6.25% of patients and the most common factor deficiency was FVII. Conclusion: Consanguinity is high in patients with inherited bleeding disorders in Iraq, leading to emergence of life-threatening autosomal recessive inherited diseases. Genetic counselling is recommended besides education and awareness to minimize such rare illnesses in the community.

Molecular analysis of CFTR gene mutations among Iraqi cystic fibrosis patients

“…Parental consanguinity among 31 CF patients was 87.1%. This is higher than the average consanguinity rates among Iraqi general populations (40–49%) [ 10 ] but similar to the rates reported for other hereditary conditions in Iraq [ 11 ]. This finding also helps to explain the increasing occurrence of rare conditions such as CF and familial aggregation of patients which is seen in 5 (16.13%) patients, similar to that reported in other regional countries [ 12 , 13 ].…”

Prevalence of bleeding symptoms among young adults in Saudi Arabia, a national survey

“…In lieu of epidemiological surveys, several intuitional-based studies assessed prevalence of inherited bleeding disorders on smaller scale in Saudi population, however, the focus and scope of these studies have been vWD, haemophilia A, haemophilia B, and platelet disorders. [ 23 – 25 ] El-Bostany et al [ 20 ] evaluated prevalence of vWD, haemophilia A, haemophilia B, and platelet disorders in 43 children, while Ahmed et al [ 26 ] reported 15 cases of haemophilia, 1 case of VII deficiency, 1 case of X deficiency and 12 cased of Glanzmann thrombasthenia. Al-Sharif et al [ 27 ] reported 17 cases with factor XIII deficiency in Riyadh region.…”

“…The high prevalence is important, as Arab populations have a higher prevalence of bleeding disorders than Western population, primarily due to the increased consanguinity ratio in Arab communities. [ 23 ] The current study provides prevalence information with respect to geographical distribution and genetic disparity of various bleeding disorders signifying the requirement for surveillance-system to identify and register individuals with bleeding symptom. Moreover, gender disparity clearly highlights the need for genetic mapping to identify the families and individuals at risk.…”

“…Owing to high consanguinity, the Arab population is more prone to bleeding disorders than their western counterpart. [ 21 – 23 ] A population-based bleeding symptom survey could help identify patients with critical bleeding disorders and hence provide better management during hospital visits, as well as evaluation of population prone to iron deficiency due to bleeding issues.…”

Analysis of 180 Genetic Variants in a New Interactive FX Variant Database Reveals Novel Insights into FX Deficiency

“… 9 10 FX deficiency is more prevalent in regions where consanguineous marriage remains common, such as in the Middle East. 9 11 12 Deficient patients experience variable bleeding symptoms, ranging from easy bruising, gum bleeding, nose bleeds and hematuria in mild cases to hemarthrosis, hematomas, intramuscular bleeds, gastrointestinal tract bleeds, and intracranial hemorrhage in more severe cases. All FX deficient patients are at greater risk of prolonged postoperative bleeding.…”