Hemophilia A causes: Difference between revisions
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{{Hemophilia A}} | {{Hemophilia A}} | ||
{{CMG}}{{AE}}{{FNY}} | {{CMG}}{{AE}}{{FNY}} {{VE}} | ||
==Overview== | ==Overview== | ||
[[Hemophilia A]] is caused by an inherited [[X-linked]] [[recessive trait]], with the defective [[gene]] located on the [[X chromosome]]. | Mainly, [[Hemophilia A|Hemophilia]] is caused by an inherited [[X-linked]] [[recessive trait]], with the defective [[gene]] located on the [[X chromosome]]. | ||
==Causes== | ==Causes== | ||
Females have two copies of the X chromosome, so if the factor VIII gene on one [[chromosome]] is defective, the gene on the other chromosome can | Females have two copies of the [[X chromosome]], so if the [[factor VIII]] gene on one [[chromosome]] is defective, the gene on the other chromosome can compensate by producing sufficient [[factor VIII]]. Males, however, have only one X chromosome. Thus, if the factor VIII gene on that chromosome is defective, they will have hemophilia A. Therefore, most people with hemophilia A are male. If a woman has a defective [[factor VIII]] gene, she is considered a [[carrier]]. This means the defective gene can be passed down to her children. Boys born to a woman who carries the defective gene have a 50% chance of having hemophilia A, while their daughters have a 50% chance of being a carrier. All female children of men with hemophilia A carry the defective gene. As the inheritance of [[Hemophilia B]] is also X-linked the above data is the same for [[factor IX]] deficiency. | ||
There are case reports that in rare cases, Hemophilia can be caused by acquired causes which lead to the synthesis of [[Factor VIII|factor VII]]I/ [[Factor IX|IX]] inhibitors. The development of inhibitors can occur idiopathically or as a result of conditions that manipulate the immune system such as malignancies, pregnancy, [[autoimmune disorders]] (e.g [[Systemic lupus erythematosus|Lupus erythematosus]] and [[rheumatoid arthritis]]) and some medications like [[Interferon-alpha|interferon-ą]]. These acquired forms of the disease, mostly appear in adulthood despite the classic form of the disease and of note, their clinical presentation of them is slightly different with the joints being least involved<ref name="pmid26679396">{{cite journal| author=Kessler CM, Knöbl P| title=Acquired haemophilia: an overview for clinical practice. | journal=Eur J Haematol | year= 2015 | volume= 95 Suppl 81 | issue= | pages= 36-44 | pmid=26679396 | doi=10.1111/ejh.12689 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26679396 }}</ref>. The development of inhibitor antibodies could be a result of factor concentrates administration in the treatment process of Hemophilia. Inhibitor development is much more common in Hemophilia A patients<ref name="pmid10444280">{{cite journal| author=Scharrer I, Bray GL, Neutzling O| title=Incidence of inhibitors in haemophilia A patients--a review of recent studies of recombinant and plasma-derived factor VIII concentrates. | journal=Haemophilia | year= 1999 | volume= 5 | issue= 3 | pages= 145-54 | pmid=10444280 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10444280 }}</ref>. | |||
==References== | ==References== | ||
Latest revision as of 09:14, 29 January 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Fahd Yunus, M.D. [2] Vahid Eidkhani, M.D.
Overview
Mainly, Hemophilia is caused by an inherited X-linked recessive trait, with the defective gene located on the X chromosome.
Causes
Females have two copies of the X chromosome, so if the factor VIII gene on one chromosome is defective, the gene on the other chromosome can compensate by producing sufficient factor VIII. Males, however, have only one X chromosome. Thus, if the factor VIII gene on that chromosome is defective, they will have hemophilia A. Therefore, most people with hemophilia A are male. If a woman has a defective factor VIII gene, she is considered a carrier. This means the defective gene can be passed down to her children. Boys born to a woman who carries the defective gene have a 50% chance of having hemophilia A, while their daughters have a 50% chance of being a carrier. All female children of men with hemophilia A carry the defective gene. As the inheritance of Hemophilia B is also X-linked the above data is the same for factor IX deficiency.
There are case reports that in rare cases, Hemophilia can be caused by acquired causes which lead to the synthesis of factor VIII/ IX inhibitors. The development of inhibitors can occur idiopathically or as a result of conditions that manipulate the immune system such as malignancies, pregnancy, autoimmune disorders (e.g Lupus erythematosus and rheumatoid arthritis) and some medications like interferon-ą. These acquired forms of the disease, mostly appear in adulthood despite the classic form of the disease and of note, their clinical presentation of them is slightly different with the joints being least involved[1]. The development of inhibitor antibodies could be a result of factor concentrates administration in the treatment process of Hemophilia. Inhibitor development is much more common in Hemophilia A patients[2].
References
- ↑ Kessler CM, Knöbl P (2015). "Acquired haemophilia: an overview for clinical practice". Eur J Haematol. 95 Suppl 81: 36–44. doi:10.1111/ejh.12689. PMID 26679396.
- ↑ Scharrer I, Bray GL, Neutzling O (1999). "Incidence of inhibitors in haemophilia A patients--a review of recent studies of recombinant and plasma-derived factor VIII concentrates". Haemophilia. 5 (3): 145–54. PMID 10444280.