History of Classical Hemophilia in a New England Family

McKusick, Victor A.

doi:10.1001/archinte.1962.03620200004002

Cited by 9 publications

(3 citation statements)

References 7 publications

(1 reference statement)

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“…The disease was described clearly by Otto JC of France in 1839. 9 In 1893, Wright called attention to the prolonged coagulation time. Other investigators in this field were Addis, Sahli, Howell and Cekada of United Kingdom and Germany respectively.…”

Section: Historical Perspectivementioning

confidence: 99%

Haemophilia: An Update

Ullah

Mondal

et al. 1970

J. Bangladesh Coll. Phys.

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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)

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Section: Historical Perspectivementioning

confidence: 99%

Haemophilia: An Update

Ullah

Mondal

et al. 1970

J. Bangladesh Coll. Phys.

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“…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 . In 1803, a Philadelphia doctor John Conrad Otto published a treatise about the 'Hemorrhagic disposition' which he recognized as inherited and occurring in male 10 .…”

Section: Introductionmentioning

confidence: 99%

Clinical Profile of Haemophilia In Children in A Tertiary Care Hospital

Karim

Siddique

et al. 2013

Bangladesh J Child Health

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Introduction : Haemophilias are the most common inherited coagulation disorders transmitted by X- linked recessive fashion affecting the males and females are the carriers of the disease. Haemophilias are distributed worldwide and have heterogeneous presentation depending upon its severity starting from neonatal period. Knowledge of spectrum of presentation of haemophilia helps in early diagnosis and planning of management. Objectives : To observe the clinical presentation of haemophilia in children Methodology : This observational study was carried out in the Department of Pediatric Hematology and Oncology, Bangabandhu Sheikh Mujib Medical University for a period of one year from 1st July 2007 to 30th June 2008. Clinical profile of 50 diagnosed cases of haemophilia <15 years of age was analyzed. Result: All the 50 cases of haemophilia were male. Mean age of the patients was 6.62±3.87 years with an age range of 6 months to 14 years. Forty (80%) cases were haemophilia A and 10 (20%) cases were Haemophilia B. Only 40% cases had family history of bleeding. Among the Haemophilia A, 52.5% cases had mild, 47.5% cases had moderate disease and among the Haemophilia B, 40% cases had mild, 50% cases had moderate and 10% cases had severe disease. Heamarthrosis of knee joint was the major presentation followed by oral cavity bleeding, bleeding following tooth extraction and circumcision. Sixty two percent cases had initial bleeding episode before 1 year of age and by 5 years of age 94% of cases had produced symptoms. No patient had history of bleeding during neonatal period. Bruises and hematoma were the most common initial manifestation followed by joint bleeding, cut injury of lips and chin, scalp and facial hematoma. Conclusion: Bruises, hematoma and joint bleeding either spontaneous or after trauma were the main feature at initial presentation of haemophilia in children, so presence of these features in an otherwise normal child should be considered for evaluation of haemophilia. More vigilance is to be needed for detection of haemophilia in newborn. DOI: http://dx.doi.org/10.3329/bjch.v37i2.17266 BANGLADESH J CHILD HEALTH 2013; VOL 37 (2) : 90-96

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“…Haemophilia is one of the bleeding disorders, has been recognized as a clinical entity since Biblical times. 2 Hemophilia is also known as 'the royal disease' as one famous carrier was Queen Victoria, Queen of England and Ireland, India who transmitted the condition to three of her children. 3 Haemophilia has been recognized all over the world, an available estimate range for incidence of haemophilia is from 1 in 20,000 to as high as 1 in 10,000 persons.…”

Section: Introductionmentioning

confidence: 99%

Effects of Circuit Training Program on Quality of Life of Children with Hemophilia

2020

IJFMT

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Circuit trainingaddresses both the components of exercise i.e. strength and aerobic which can be administered to participants in a playful manner. As the large number of children will have to gather at one place for the intervention, so it will be beneficial for the therapist also to conduct the session by incorporating them into small groups. Very few have shown the effects of circuit training in hemophilia Therefore it becomes necessary to provide an exercise regimen to children which will be interesting to perform in order to improve their general fitness level.Methodology: Forty nine participants were selected and screened and were allocated into 7 groups. The intervention was given for 4 weeks period, once a day for 7min with 50 sec for exercise and 10 sec to move from one station to the next. Pre and Post parameters were assessed forVAS for fatigue and Subjective Exercise Experience Scale.Results: Data was analyzed using Graph-Pad InStat software version-trial version 3.03. The statistical measures utilized were mean, standard deviation and test of significance such as Paired't' test to analyze the data. The results were concluded to be statistically significant with p <0.05 and highly significant with p < 0.01. Conclusion:The present study concludes that the circuit training is effective in hemophilic children as its multipronged approach improves various body systems.

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History of Classical Hemophilia in a New England Family

Cited by 9 publications

References 7 publications

Haemophilia: An Update

Haemophilia: An Update

Clinical Profile of Haemophilia In Children in A Tertiary Care Hospital

Effects of Circuit Training Program on Quality of Life of Children with Hemophilia

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