Haemophilia: An Update

Abstract

Haemophilia has been recognized a clinical entity since Biblical times when there was repeated history of death from circumcisional bleeding in male siblings. Recent advances in protein chemistry and recombinant DNA technology have produced a comprehensive account both of normal coagulation and of the molecular genetics of some type of haemophilia. Haemophilia is a hereditary coagulation disorders usually of male associated with serious bleeding which is transmitted by healthy women. It is caused by a reduction in the amount or activity of factor VIII. This protein serves as a cofactor for factor IX in the activation factor X in the coagulation cascade. Haemophilia A & Haemophilia B exhibit a wide range of clinical severity that correlate well the level of factor VIII activity. Those with less than 1% of normal activity develop severe disease; levels between 2% and 5% of normal are associated with moderate disease; and patient with 6% to 50% of activity developed mild disease. The variable degrees of factor VIII deficiency are largely explained by heterogenecity in the causative mutation. Several genetic lesions - deletions, nonsense mutations that create loop codons, splicing errors have been documented. Most severe deficiencies result from an unusual inversions involving X chromosomes that completely abolishes the synthesis of factor VIII. Haemophilia is inherited as X-linked recessive trait, and thus occurs in male and both homozygous and heterozygous female. Approximately 30% of patients have no family history; their disorder is presumably caused by new mutation. 
 In this review article we want to highlight the recent aspects of haemophilia including the occurrence of haemophilia in female, genetic causes of coagulation factor deficiency, carrier detection and antenatal diagnosis, upto date diagnostic tools of this hereditary coagulation disorder as well as management of haemophiliac patients in special situation like circumcision, road traffic accident, minor and major surgery.
 (J Bangladesh Coll Phys Surg 2007; 25 : 29-37)

Pattern of Common Inherited Coagulation Disorders: Evaluation of 100 Cases

“…One patient of RICD had normal spectrum of coagulation profilebut the urea clot solubility test was positive. The above mentioned laboratory findings are almost similar to findings by Sahaet MM al 12 and Franchini M et al 13 . Rare inherited coagulation factor deficiencies have autosomal recessive inheritance in both genders.…”

Clinical Profile of Haemophilia In Children in A Tertiary Care Hospital

“…Haemophilia is distributed worldwide 5 . Incidence of haemophilia A and B is 1:10000 and 1:60000 males respectively 6,7 . Haemophilia has been recognized a clinical entity since Biblical times as evidenced by the writings of a Rabi in a Babylonian Talmud, "If she circumcised her first son and he died and a second son also died she must not circumcised her third child" 8,9 .…”

Clinical profile and demographic characteristics of moderate and severe hemophilia patients in a tertiary care hospital of Bangladesh

“…Hemophilia A and B are X-linked genetic diseases caused by mutation in the factor VIII and factor IX genes leading to coagulation disorders [2], the clinical form of which is identical [14]. They usually present as bleeding after minor insignificant trauma or as a spontaneous hemorrhage [15].…”

“…Gum bleeding age [14,22]. Moreover, spontaneous bleeding is uncommon in mild cases, and recurrent joint bleed may be present in up to 25% of moderate cases [22] leading to delayed suspicion.…”