Latest Research on Hemophilia: Jan – 2020

Hemophilia A

The dramatic hemorrhages, the effect of the disease on history through its presence in Queen Victoria’s descendants, and therefore the devastating role of therapeutic concentrates within the transmission of the acquired immunodeficiency syndrome (AIDS) have made hemophilia A the thing of great medical, scientific, and public interest. the most typical hereditary coagulation disorder and a disease without ethnic or geographic limitations, its incidence approaches 20 per 100,000 male births13. John Conrad Otto emphasized its inheritance as an X-linked disorder in his 1803 description of the disease during a New Hampshire family: “males only are subject to the present strong affection. [1]

Guidelines for the management of hemophilia

Hemophilia may be a rare disorder that’s complex to diagnose and to manage. These evidence‐based guidelines offer practical recommendations on the diagnosis and general management of hemophilia, also because the management of complications including musculoskeletal issues, inhibitors, and transfusion‐transmitted infections. By compiling these guidelines, the planet Federation of Hemophilia aims to help healthcare providers seeking to initiate and/or maintain hemophilia care programs, encourage practice harmonization round the world and, where recommendations lack adequate evidence, stimulate appropriate studies. [2]

Bleeding in carriers of hemophilia

A wide range of antihemophilic factor and IX levels is observed in heterozygous carriers of hemophilia also as in noncarriers. In female carriers, extreme lyonization may cause low coagulation factor levels. We studied the effect of heterozygous hemophilia carriership on the occurrence of bleeding symptoms. A postal survey was performed among most of the ladies who were tested for carriership of hemophilia within the Netherlands before 2001. The questionnaire included items on personal characteristics, characteristics of hemophilia within the affected relations , and carrier testing and history of bleeding problems like bleeding after tooth extraction, bleeding after tonsillectomy, and other operations. Information on coagulation factor levels was obtained from the hospital charts. Logistic regression was wont to assess the relation of carrier status and coagulation factor levels with the occurrence of hemorrhagic events. In 2004, 766 questionnaires were sent, and 546 women responded (80%). Of these, 274 were carriers of hemophilia A or B. The median coagulation factor level of carriers was 0.60 IU/mL (range, 0.05-2.19 IU/mL) compared with 1.02 IU/mL (range, 0.45-3.28 IU/mL) in noncarriers. [3]

First Report of Prevalence of Blood-Borne Viruses (HBV, HCV, HIV, HTLV-1 and Parvovirus B19) Among Hemophilia Patients in Afghanistan

Blood-borne viruses including hepatitis B and C, HIV, HTLV-1 and parvovirus B19 are still an element of concern, especially for hemophilia patients. Although the security of the blood supply continues to enhance worldwide, the blood supply system in Afghanistan was damaged by a few years of conflict and political instability. To date, there are few studies focused on the prevalence of blood-borne viruses in hemophilia patients. This study is first to research the prevalence of 5 blood-borne viruses in Afghanistan hemophilia patients in four cities including Kabul, Herat, Mazar-i-Sharif and Jalal Abad. a complete of 80 hemophilia male patients were screening for the presence of 5 transfusion-transmitted viruses using ELISA and PCR. [4]

Hemophilia A and Induced Pluripotent Stem Cells

Hemophilia A may be a hemorrhage disorder inherited consistent with the X-linked inheritance pattern. It affects about 1 in 4,000 to 10,000 males. Permanent changes within the F8 gene end in hemophilia A . These changes end in an abnormal version of clotting factor VIII. This abnormality determines the sorts of the disorder, namely, severe and mild or moderate hemophilia A . Currently, to treat hemophilia A , infusions of plasma-derived or recombinant antihemophilic factor are often used. However, the value is extremely high. It makes heavy burdens on the patients, their families or the health care system. Therefore, advanced therapy as iPSCs technique has attracted attention of researchers to research for curing this disorder. for instance , to get edited DNA segments thanks to hemophilia A , this system are often used. Research leads to animal models have shown important advances. [5]


[1] Hoyer, L.W., 1994. Hemophilia a. New England Journal of Medicine, 330(1), (Web Link)

[2] Srivastava, A., Brewer, A.K., Mauser‐Bunschoten, E.P., Key, N.S., Kitchen, S., Llinas, A., Ludlam, C.A., Mahlangu, J.N., Mulder, K., Poon, M.C. and Street, A., 2013. Guidelines for the management of hemophilia. Haemophilia, 19(1), (Web Link)

[3] Plug, I., Mauser-Bunschoten, E.P., Bröcker-Vriends, A.H., van Amstel, H.K.P., van der Bom, J.G., van Diemen-Homan, J.E., Willemse, J. and Rosendaal, F.R., 2006. Bleeding in carriers of hemophilia. Blood, 108(1), (Web Link)

[4] First Report of Prevalence of Blood-Borne Viruses (HBV, HCV, HIV, HTLV-1 and Parvovirus B19) Among Hemophilia Patients in Afghanistan
Sayed Hamid Mousavi, Niloofar Khairkhah, Tina Delsouz Bahri, Ali Anvar, Alireza Azizi Saraji, Bita Behnava, Seyed Moayed Alavian & Ali Namvar
Scientific Reports volume 9, (Web Link)

[5] L. Nelwan, M. (2017) “Hemophilia A and Induced Pluripotent Stem Cells”, Journal of Advances in Biology & Biotechnology, 14(3), (Web Link)

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