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Preeti
I am a final yr medical student and i just love ur website!!! I regularly use it to help me with my preparations. The topics are so lucidly written and easily understood with up to date information.. Even the HIV related web site ( www.hivinchildren.org) by Dr.Ira Shah is just fabulous!!! |
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Dr Parang N Mehta
Dear Dr Ira Shah, Congratulations on putting up an excellent website, which will be of great use to practicing pediatricians everywhere. You have achieved the near impossible in getting some of the biggest names in pediatrics in India to contribute content to your site. |
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Sujatha
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Uttam Laisram
I found the Vaccine Reminder feature on your Website very interesting. My request is that this useful facility may not be restricted to Registered Users, but may be made available to all Visitors, who may like to enter their child's details and take a print-out of the Vaccine schedule. Please consider. Keep up the excellent work in providing India-relevant information for child care. |
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Dr Ira Shah
M.D, DNB, DCH(Gold Medalist), FCPS
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Causes of Factor XIII deficiency
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Acquired – Seen in conditions such as Crohn’s disease, leukemla, ulcerative colitis associated with DIC. Factor XIII may be decreased to about 50% in these diseases. The clinical significance of these decreased levels in unclear.
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Hereditary Factor XIII deficiency-It is extremely rare with about 200 cases reported. Since Factor XIII is a heterotetramer with 2A chains and 2B protein chains, polymorphism in A and B proteins may lead to clinical manifestation. Factor XIII is not only in plasma but also in platelets, megakaryocytes and monocytes – macrophages. The intracellular form has no B protein and its specific functions are unknown. The gene for the A chain is located on chromosome 6 (2) and gene for B chain is on chromosome 1.(3)
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Clinical features – The phenotype varies from moderate to severe life threatening bleeds. The first symptom is rebleeding from umbilical stump about 24-36 hours later after birth. Patients may have superficial bruising and subcutaneous hematomas. Spontaneous intracranial bleeds may occur in more than 30% of patients and may be the cause of death. Female patients who become pregnant always spontaneously abort unless treated.
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Diagnosis
Screening tests for bleeding are all normal because a clot will form normally. Clot solubility in dispersing solvents such as monochloroacetic acid or urea is a useful test. If clot is soluble quickly, it suggests severe deficiency (<1%) of either factor XIII or alpha 2-antiplasmin. Confirmation is by measurement of protein concentration quantitatively and enzyme activity.
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Homozygous deficiency:– There is presence of undetectable levels of A protein and enzyme activity and around 50% of normal B protein. Some patients (in Japan & Italy) may have low levels of A with deficiency of B protein.
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Heterozygous deficiency: – These patients have around 50% levels of A and 80% of B protein.
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Treatment
Any injury to the head should be treated aggressively and children should be treated prophylactically because of a high chance of intracranial bleed. Factor XIII concentrates, fresh-frozen plasma (FFP) and cryoprecipitate are all effective. 1 unit of factor XIII concentrate equals 1 ml of plasma factor XIII activity. Treatment is given to achieve an initial level of 50% for prophylaxis. Patients should be infused on a 4-6 week schedule as protein A has a long half-life of 8 to 14 days and very low concentration (5-10%) can achieve hemostasis. Infusion of 5 ml/kg of normal FFP is efficacious.
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Inhibitors to Factor XIII – The development of inhibitors is rare. Patients with inhibitors present with massive bleeding. It has been reported in patients with prolonged treatment with isoniazid, penicillin or diphenylhydantoin. Plasma exchange, extracorporeal circulation through protein A, factor XIII concentrates and platelet concentrates have been tried without success.
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References
- Hereditary and acquired deficiencies of activated factor XIII – William’s Hematology-Ernest Beutler, Marshall Lichtman, Barry Coller, Thomas Kipps, 5th ed. McGraw Hill Inc. New York,5th ed. Pg. 1455-1457.
- Board PG, Webb GC, McKee J, Ichinose A: Localization of the coagulation factor XIII A subunit gene (F13A) to chromosome brands 6p 24-p25. Cytogenet Cell Genet 48:25, 1988
- Chen LZ, Easteal S, Board PG, Kink RL: Genetic affinities of oceanic populations based on RFLP and haplotype analysis of genetic loci on three chromosomes, Hum Biol 64:1, 1992.
Last Updated on 11-08-2007
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