Clinical profile of hemophilia B patients from Karnataka

Sujayendra Kulkarni; Rajat Hegde; Smita Hegde; Suyamindra S Kulkarni; Suresh Hanagvadi; Kusal K Das; Sanjeev Kolagi; Pramod B Gai; Rudragouda S Bulagouda

doi:10.4103/jfmpc.jfmpc_1773_21

Clinical profile of hemophilia B patients from Karnataka

J Family Med Prim Care. 2022 Jun;11(6):2735-2738. doi: 10.4103/jfmpc.jfmpc_1773_21. Epub 2022 Jun 30.

Authors

Sujayendra Kulkarni^{1

2}, Rajat Hegde³, Smita Hegde³, Suyamindra S Kulkarni³, Suresh Hanagvadi⁴, Kusal K Das⁵, Sanjeev Kolagi⁶, Pramod B Gai³, Rudragouda S Bulagouda¹

Affiliations

¹ Department of Anatomy, Human Genetics Laboratory, Shri B.M Patil Medical College, Hospital and Research Centre, BLDE (Deemed to be University), Vijayapura, Karnataka, India.
² Division of Human Genetics (Central Research Lab), S. Nijalingappa Medical College, HSK Hospital and Research Center, Bagalkot, Karnataka, India.
³ Karnataka Institute for DNA Research (KIDNAR), Dharwad, Karnataka, India.
⁴ Department of Pathology, J. J. M. Medical College, Davangere, Karnataka, India.
⁵ Department of Physiology, Laboratory of Vascular Physiology and Medicine, Shri B.M Medical College, Hospital and Research Centre, BLDE (Deemed to be University), Vijayapura, Karnataka, India.
⁶ Department of Anatomy, S. Nijalingappa Medical College, HSK Hospital and Research Center, Bagalkot, Karnataka, India.

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, n_male = 148 and n_female = 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.

Keywords: Epidemiology; F9 gene; Karnataka; hemophilia B.