title: Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions.
abstract: Autosomal recessive bleeding disorders (ARBDs) include deficiencies of clotting factors I, II, V, VII, X, XI, XIII, vitamin K dependent clotting factors, combined factor V & VIII, Von Willebrand Disease (vWD) type 3, Glanzmann's thrombasthenia (GT) and Bernard-Soulier syndrome. Patients with primary bleeding disorders from all the major provincial capitals of Pakistan were screened for ARBDs. Prothrombin (PT), activated partial thromboplastin time (APTT), bleeding time (BT) and fibrinogen levels were measured. Cases with isolated prolonged APTT were tested for factors VIII and IX using factor assays This was followed by FXI:C level assessment in cases with normal FVIII and FIX levels. vWD was screened in patients with low FVIII levels. Factors II, V and X were tested in patients with simultaneous prolongation of PT and APTT. Peripheral blood film examination and platelet aggregation studies were performed to assess platelet disorders. Urea clot solubility testing was done to detect Factor XIII levels where platelet function tests were normal. Descriptive analysis was done using SPSS version 16.
  
  
  
  Of the 429 suspected bleeding disorder patients, 148 (35%) were diagnosed with hemophilia A and 211 (49.1%) patients had ARBDs. 70 patients (16.3%) remained undiagnosed. Out of 211 patients with ARBD; 95 (33.8%) had vWD type 3. Fibrinogen deficiency was found in 34 patients (12%), GT in 27 (9.6%), factor XIII deficiency in 13 (4.6%), factor VII deficiency in 12 (4.3%), factor V deficiency in 9 (3.2%). Eight patients (2.8%) had vitamin K-dependent clotting factor deficiency, Bernard-Soulier syndrome was diagnosed in seven patients (2.5%), factor X deficiency in 2 (0.7%), factor II deficiency in 2 (0.7%), factor XI deficiency and combined factor V and VIII deficiency in 1 (0.4%) patient each.
  
  
  
  vWD type 3 was the most common ARBD found in our sample of patients in Pakistan, followed by fibrinogen deficiency and GT in respective order.
authors.affiliation: Department of Thrombosis and Hemostasis, National Institute of Blood Diseases and Bone Marrow Transplantation, ST 2/A, Block 17, Gulshan-e-Iqbal, KDA Scheme 24, Karachi, Pakistan. labarshi2013@gmail.com.
authors.forename: Arshi
authors.identifier: 0000-0002-8747-5951
authors.initials: A
authors.lastname: Naz
authors.affiliation: Department of Thrombosis and Hemostasis, National Institute of Blood Diseases and Bone Marrow Transplantation, ST 2/A, Block 17, Gulshan-e-Iqbal, KDA Scheme 24, Karachi, Pakistan.
authors.forename: Muhammad Younus
authors.initials: MY
authors.lastname: Jamal
authors.affiliation: Department of Hematology, Pakistan Atomic Energy Commission Hospital, Islamabad, Pakistan.
authors.forename: Samina
authors.initials: S
authors.lastname: Amanat
authors.affiliation: Department of Pathology, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan.
authors.forename: Ikram
authors.initials: I
authors.lastname: Din Ujjan
authors.affiliation: Fatimid Foundation, Karachi, Pakistan.
authors.forename: Akber
authors.initials: A
authors.lastname: Najmuddin
authors.affiliation: Department of Thrombosis and Hemostasis, National Institute of Blood Diseases and Bone Marrow Transplantation, ST 2/A, Block 17, Gulshan-e-Iqbal, KDA Scheme 24, Karachi, Pakistan.
authors.forename: Humayun
authors.initials: H
authors.lastname: Patel
authors.affiliation: Department of Hematology, Hayatabad Medical Complex and Lady Reading Hospital, Peshawar, Pakistan.
authors.forename: Fazle
authors.initials: F
authors.lastname: Raziq
authors.affiliation: Department of Hematology, Children's Hospital, Lahore, Pakistan.
authors.forename: Nisar
authors.initials: N
authors.lastname: Ahmed
authors.affiliation: Department of Hematology, Chughtai's Laboratory, Lahore, Pakistan.
authors.forename: Ayisha
authors.initials: A
authors.lastname: Imran
authors.affiliation: Department of Thrombosis and Hemostasis, National Institute of Blood Diseases and Bone Marrow Transplantation, ST 2/A, Block 17, Gulshan-e-Iqbal, KDA Scheme 24, Karachi, Pakistan.
authors.forename: Tahir Sultan
authors.initials: TS
authors.lastname: Shamsi
mesh_terms: D000293:Adolescent; D002648:Child; D020147:Coagulation Protein Disorders / Q000453:epidemiology* / Q000235:genetics*; D003241:Consanguinity; D003430:Cross-Sectional Studies; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010154:Pakistan / Q000453:epidemiology
keywords: Autosomal recessive; Bernard–Soulier syndrome; Coagulation factors; Glanzmann’s thrombasthenia; Inherited bleeding disorders; von Willebrand disease type 3