Factor VII deficiency: a rare genetic bleeding disorder in a 7-year-old child: a case report.

BACKGROUND: Factor VII deficiency is a rare inherited bleeding disorder that has similar clinical presentation to hemophilia. CASE REPORT: A 7-year-old male child of African origin experienced recurrent nasal bleeding since 3 years of age and recurrent swelling of the joints that was remarkable at the age of 5-6 years. He received multiple blood transfusions and has been managed as a patient with hemophilia until he presented to our facility. Reviewed evaluation of the patient revealed abnormal prothrombin and normal activated partial thromboplastin time, FVII analysis showed activity level of less than 1%, and the diagnosis of FVII deficiency was made. The patient was treated with fresh frozen plasma, vitamin K injection, and tranexamic tablets. CONCLUSION: Even though factor VII deficiency is an extremely rare bleeding disorder, it does occur in our setting. This case highlights the need for clinicians to consider this condition when faced with challenging patients presenting with bleeding disorders.

A ten year review of the sickle cell program in Muhimbili National Hospital, Tanzania.

BACKGROUND: Africa has the highest burden of Sickle cell disease (SCD) but there are few large, systematic studies providing reliable descriptions of the disease spectrum. Tanzania, with 11,000 SCD births annually, established the Muhimbili Sickle Cell program aiming to improve understanding of SCD in Africa. We report the profile of SCD seen in the first 10 years at Muhimbili National Hospital (MNH). METHODS: Individuals seen at MNH known or suspected to have SCD were enrolled at clinic and laboratory testing for SCD, haematological and biochemical analyses done. Ethnicity was self-reported. Clinical and laboratory features of SCD were documented. Comparison was made with non-SCD population as well as within 3 different age groups (< 5, 5-17 and ≥ 18 years) within the SCD population. RESULTS: From 2004 to 2013, 6397 individuals, 3751 (58.6%) SCD patients, were enrolled, the majority (47.4%) in age group 5-17 years. There was variation in the geographical distribution of SCD. Individuals with SCD compared to non-SCD, had significantly lower blood pressure and peripheral oxygen saturation (SpO2). SCD patients had higher prevalence of severe anemia, jaundice and desaturation (SpO2 < 95%) as well as higher levels of reticulocytes, white blood cells, platelets and fetal hemoglobin. The main causes of hospitalization for SCD within a 12-month period preceding enrolment were pain (adults), and fever and severe anemia (children). When clinical and laboratory features were compared in SCD within 3 age groups, there was a progressive decrease in the prevalence of splenic enlargement and an increase in prevalence of jaundice. Furthermore, there were significant differences with monotonic trends across age groups in SpO2, hematological and biochemical parameters. CONCLUSION: This report confirms that the wide spectrum of clinical expression of SCD observed elsewhere is also present in Tanzania, with non-uniform geographical distribution across the country. Age-specific analysis is consistent with different disease-patterns across the lifespan.