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Aug 2024 DOI 10.14302/issn.2372-6601.jhor-24-5108
Zakaria Baniamer AnsamCorresponding author
Hereditary thrombotic diseases, or inherited bleeding disorders, are a group of genetic conditions that disrupt normal blood coagulation. These diseases result from mutations in genes encoding blood coagulation factors or other regulatory proteins, impairing the body's ability to regulate bleeding and clotting. The most common inherited clotting disorders are hemophilia A and B, which are associated with deficiencies in clotting factors VIII and IX, respectively. Von Willebrand disease (VWD) is another prevalent disorder characterized by a deficiency or dysfunction of the Von Willebrand factor, a protein essential for coagulation. Additionally, the Factor V Leiden mutation is linked to an increased risk of blood clots. The prevalence of inherited coagulation disorders varies significantly by region and subpopulation. It is estimated that 5,000 to 10,000 male newborns are born with hemophilia A or B each year. Von Willebrand disease is much more common, affecting about 1% of the global population. The Factor V Leiden mutation is found in significant percentages of certain populations, with 3–8% of Caucasians being carriers. While antithrombin deficiency is more common in some areas, the incidence of other inherited clotting disorders, such as Factor XI, protein C and S deficiencies, and VWD, varies widely worldwide. This study discusses the incidence of inherited clotting disorders and their impact on affected individuals and their families. It also covers new advancements in disease management, alternative therapy approaches, and contemporary diagnostic techniques, aiming to improve diagnoses, treatments, and outcomes for patients with hereditary clotting disorders.
Mar 2026 DOI 10.14302/issn.2372-6601.jhor-25-5938
Regan CaineCorresponding author
Acquired haemophilia (AHA) is a rare coagulation disorder secondary to autoantibodies against coagulation factor, most commonly factor VIII with potential for life threatening bleeding episodes. We report a case of an 88-year-old female presenting with frank haematuria three weeks after catheter insertion. Her background was of Alzheimer’s Dementia, Asthma and Bullous Pemphigoid for which she was on low dose maintenance prednisolone (5mg). Laboratory tests showed haemoglobin 98g/dl and partial thromboplastin time (PTT) of 60s, with corrected prothrombin time 52s. Fibrinogen 5.39. As such coagulation factors were tested which revealed factor VIII of 0%. Her case was complicated by urinary tract sepsis, as such she was treated with oral prednisolone 60mg without immunosuppressive agent usage. A pan-CT scan revealed likely mesothelioma for which she declined further investigation. This case report will describe a rare presentation of AHA associated with bullous pemphigoid and mesothelioma, complicated by infection and frailty.
Aug 2019 DOI 10.14302/issn.2372-6601.jhor-19-2982
Padaro EssohanaCorresponding author
Hematology Department, Campus Teaching Hospital, University of Lome.
Objective Rosenthal's disease (RD) is a rare constitutional hemorrhagic disorder defined by factor XI deficiency. It is clinically characterized by the presence of minimal haemorrhage. We report the first observation of RD in Togo. Observation Mrs. G. A., 45 years old with no particular pathological antecedents, was referred for anemia in a context of chronic epistaxis. It was a spontaneous anterior exteriorization epistaxis often of great abundance, rocking and which evolved episodically. The patient received several transfusions for anemia. The ear-nose-throat examination was normal and a sinus CT scan found only an inflammatory process of the right maxillary sinus. The blood count showed microcytic severe anemia (2,2g/dl). Hemostasis tests showed a prolonged aPTT (57,9 seconds). Clinical examination documented an anemic syndrome with dry skin. Iron deficiency was found. The hemostasis balance confirmed aPTT elongation. Coagulation factors activity showed normal VIII and IX level, but moderate decrease of factor XI (32%). The family survey was not possible (orphan patient). It is recommended the setting under fresh frozen plasma (FFP) in case of a new episode. Follow-up is in progress. Conclusion In the event of any hemorrhagic syndrome, the isolated elongation of the aPTT must lead to a systematic analysis of intrinsic pathway factors