A Review on Hemophilia in Children

Karim, Asm Bazlul; Jamal, Chowdhury Yakub

doi:10.3329/bjch.v37i1.15349

Cited by 8 publications

(10 citation statements)

References 47 publications

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“…Hemophilia A (Classical) and B (Christmas disease) are congenital bleeding disorders caused by a deficiency or complete absence of coagulation factor VIII (FVIII) or factor IX (FIX), respectively. Hemophilia A and B constitutes 80% and 20% of all hemophilia cases [1]. It represents the large majority of hereditary clotting disorders, with hemophilia A and B occurring in approximately one per 5,000 and one per 30,000 male births, respectively [2].…”

Section: Introductionmentioning

confidence: 99%

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

Islam¹,

Biswas

Nazneen

et al. 2022

Orphanet J Rare Dis

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Background Hemophilia is one of the commonest inherited bleeding disorders which may lead to chronic bleeding tendencies and life-long disabilities if not properly managed. Knowing the pattern of the disease aids in the prevention of disability and improvement of quality of life in hemophilia. However, there is a dearth of literature on the issue in Bangladesh. So, this study was designed to explore the frequency and site of spontaneous bleeding in moderate and severe hemophilia patients visiting in a tertiary level hospital. Methods This descriptive cross-sectional study was conducted at the department of Hematology and Bone Marrow Transplantation (BMT) Center in Dhaka Medical College Hospital, Dhaka between February 2020 and August 2020. A total of 44 diagnosed cases of moderate to severe hemophilia were included in the study according to inclusion criteria. A detailed inquiry of history, thorough physical examination and relevant investigations were done and were recorded in case-record form. Informed written consent was taken from patients or their guardians where appropriate. All procedures were done according to Declaration of Helsinki. After entry and checking, data was analysed using SPSS version 26. Results Out of 44 participants, 25 (56.8%) and 19 (43.2%) had moderate and severe hemophilia. Mean age of the study population was 21.31 (± 9.78) years with the majority aged between 11 and 20 years (45.5%). All sociodemographic features were similar across severity. Hemophilia A and B was found in 90.9% and 9.1%, respectively. However, all type B patients severe hemophilia making it statistically significantly different from type A (p = 0.029). The median age of first bleeding was 3.5 years and median age of first diagnosis was 5 years. Nevertheless, approximately 67.4% patients were diagnosed as a case of hemophilia at the time of their first diagnosis. The median spontaneous bleedings episodes among all patients was 32 (range: 0–97) which did not different significantly between severe and moderate patients. The most common affected (target) joint was knee joint (88.6%) followed by elbow joint (64%) among all patients. The knee joint was more commonly involved in severe than moderate disease. Conclusion This study observed the variations in pattern and frequency of spontaneous bleeding in patients with hemophilia. Severe disease was more frequent in hemophilia B than A and knee joint was the most frequent site of bleeding. However, further extensive studies are recommended.

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Section: Introductionmentioning

confidence: 99%

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

Islam¹,

Biswas

Nazneen

et al. 2022

Orphanet J Rare Dis

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“…Here, a small gene of unknown mutation termed F8A is inserted within a non coding region of large FVIII resulting division and inactivation of FVIII gene. This mutation facilitates testing DNA for carrier identification 9 .…”

Section: Geneticsmentioning

confidence: 99%

“…Male with hemophilia will not transmit this disease to his son but all his daughters will be carrier.. HA can result from many genetic errors like a large variety of point mutation, gene deletion, stop codon abnormality, frame shift mutation and inversion mutation. These knowledge help in carrier identification by DNA analysis and correction of gene defect to prevent inhibitor development 9 .…”

Section: Geneticsmentioning

confidence: 99%

Hemophilia in Children

Islam

Morshed

Khan

2016

J. paediatr. surg. Bangladesh

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Hemophilia is the most common serious congenital coagulation factor deficiencies. The prevalence of hemophilia is estimated to be about 1:10,000 birth and that of the severe form of the disease to be about 6% per 1,00,000 population. The most pathetic part of this disease is that even medical personnel are sometimes not familiar with its diagnosis and management. There is obviously a need to establish facilities and treatment options that will help the patient with hemophilia to manage their life with ease. As this is a genetic disorder no complete cure is possible as of now. The only available treatment option is the infusion of factors and some adjuvant therapies depending upon the bleeding conditions .Hemophilia, if not properly managed, can lead to chronic disease and lifelong disabilities. The challenges and issues in infants/young children are different from those in older children and adults although episodes of bleeding still predominate as the diagnostic trigger. Currently, inhibitor development is a challenging complication of pediatric hemophilia and prophylaxis is emerging as the optimal preventive care strategy. In this section we will review some important aspects of hemophilia in children including early prophylaxis, current evidence relating to inhibitor development.

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“…The United States Universal Data Collection project (UDC) describes the ratio of women to men with hemophilia A of 1:32. The incidence of hemophilia A cases in women is associated with lyonization phenomena, the lack of X chromosomes and genetics of both parents of the patient[4][5][6][7] .In this patient, a hematoma was found in the right posterior femur region. Repeated episodes of bleeding can result in joint deformities in the patient's knee, known as Haemophilic Arthropathy.…”

mentioning

confidence: 99%

“…Hemophilia A generally occurs in men. Siddiqi et al (2010) reported19.92% cases of hemophilia A from the total male population in America Karim & Jamal, 2013. reported that 1 in 10,000 male births suffer from hemophilia A.…”

mentioning

confidence: 99%

Inhibitors in Hemophilia A with Posterior Dextra Femoral Region Hematoma

Malfira Iswary,

Hartono Kahar

2021

Indian Journal of Forensic Medicine & Toxicology

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Hemophili A is a hereditary coagulation disorder caused by deficiency or dysfunction of clotting factor (F) VIII. FVIII inhibitors are antibodies that functionally have the ability to inhibit FVIII activity. Patients are suspected of having FVIII inhibitors if the response to FVIII replacement therapy is inadequate. In this research, we observed a case of a 60-year-old woman with complaints of pain and swelling of her right thigh for the past 3 days. Physical examination revealed anemic conjunctiva and hematoma in the right posterior femur region. Laboratory results showed Hb 9.1 g / dL, WBC 10.96 / μL, PLT 351.000 / μL, APTT 74 seconds, CT 40 minutes, FVIII 1% and inhibitor assay 928 BU. Patient received Koate therapy, tranexamic acid and RICE (Rest, Ice, Compression, Elevation). Hemophilia A cases are generally seen in males with history of bleeding in the family and most often characterized by repeated bleeding in the joints. In this case, we found a female patient with a hematoma in the right posterior femur region. The result of FVIII examination was 1% and inhibitor assay was 928 BU. It can be concluded that the patient in this case suffered from hemophilia A with inhibitor.

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A Review on Hemophilia in Children

Abstract: DOI: http://dx.doi.org/10.3329/bjch.v37i1.15349 BANGLADESH J CHILD HEALTH 2013; VOL 37 (1) : 27-40

Cited by 8 publications

References 47 publications

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

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

Hemophilia in Children

Inhibitors in Hemophilia A with Posterior Dextra Femoral Region Hematoma

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