Clinical profile of hemophilia B patients from Karnataka

Abstract

Background: The most prevalent severe inherited hemorrhagic condition is hemophilia, which means “love of blood.” Hemophilia A and B are caused by a lack or malfunction of the factor VIII and factor IX proteins. Objective: The present study is to determine the prevalence and clinical profile of hereditary coagulation disorder, particularly hemophilia B, in Karnataka. Methods: The study comprised 150 HB patients with a mean age of 25, nmale = 148 and nfemale = 2. The samples were collected from hemophilia societies across Karnataka. The detailed history of HB patients was recorded in a predesigned Performa regarding family history, age, time of first bleed, site of the bleed, and bleeding history. Result: In our study cohort, the majority of the 58 (38.7%) cases belong to 21–30 years of age. The mean age of onset was 2.0 ± 1.0 years in severe, 7.5 ± 2.8 0 years in moderate, and 10.0 ± 3.5 years in mild HB patients. Out of 150 HB cases, 102 (68%) cases were diagnosed as severe, 30 (20%) as moderate, and 18 (12%) as mild. Mean factor IX levels were 0.6 ± 0.2, 2.5 ± 1.3, and 8.0 ± 2.6 in the severe, moderate, and mild group, respectively. A family history of bleeding was observed in 97 [64.7%] HB patients. Forty-seven (32.3%) HB patients had a history of consanguinity. The most common initial site of bleed was in joints in 86 [57.3%]. Conclusion: The present study is one of the fewer studies from Karnataka studying the demographic and clinicopathological features of hemophilia B. Early diagnosis can be only helpful with knowledge of spectral presentation of hemophilia B in a local population.

Genotype-phenotype analyses of Iranian patients with and without hemophilia B Leyden: A single-center study

“…A family history has been detected in 45-65% of HB cases. In our study, the family history has been observed in 55% of patients [19,[21][22]. This indicates the sporadic nature of disease due to spontaneous genetic mutations.…”

“…Similar to other studies, the age at the time of diagnosis for patients with severe HB was signi cantly lower than that for patients with mild or moderate cases. A study by Kulkarni et al found that in severe patients, bleeding started at a mean age of 2.0 1.0 years, in moderate patients at 7.5 2.8 years, and in mild patients at 10 3.5 years [19]. However, in a study of 35 Pakistani patients, the median age at rst bleeding was not signi cantly different between severe (12.0 months), moderate (6.0 months), and mild (15.5 months) HB patients [20].…”