Hematological Disorders: Sickle Cell Disease and Hemophilia

Objectives: Newborn screening in the United States and Europe allows early identification of congenital disorders but does not yet exist in most low-resource settings, especially in sub-Saharan Africa. Newborn screening can identify multiple inherited hematological disorders, but feasibility and effectiveness for Africa are not fully determined.Methods: Surplus dried blood spot collected in Central Malawi through the HIV Early Infant Diagnosis surveillance program were repurposed and tested by isoelectric focusing for sickle cell disease and trait. Additional genetic testing identified G6PD deficiency and alpha thalassemia.Results: Testing of 10,529 cards revealed an overall sickle cell trait prevalence of 7.0% (range 3.9–9.7% by district); 10 of 14 infants identified with sickle cell disease (prevalence 0.1%) were located and received care at a specialized clinic. Subsequent testing of 1,329 randomly selected cards identified alpha thalassemia trait in 45.7% of samples, and G6PD deficiency in 20.4% of males and 3.4% of females, with 29.0% of females as heterozygous carriers.Conclusion: Inherited hematological disorders are common in Central Malawi; early identification through newborn screening can improve clinical outcomes and should be supported throughout Africa.

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Prevalence of Respiratory Symptoms in Children with Sickle Cell Disease Compared to Children with Other Hematological Diseases.

Blood ◽

10.1182/blood.v104.11.3754.3754 ◽

2004 ◽

Vol 104 (11) ◽

pp. 3754-3754

Author(s):

Brigitta Ursula Mueller ◽

Monica Acosta ◽

Marlen Dinu ◽

Marianna Sockrider ◽

Felix Shardonofski ◽

...

Keyword(s):

Sickle Cell Disease ◽

Sickle Cell ◽

Respiratory Symptoms ◽

Airway Disease ◽

The Other ◽

Acute Chest Syndrome ◽

Cell Disease ◽

Respiratory Problems ◽

Hematological Disorders ◽

Hematological Diseases

Abstract Acute chest syndrome (ACS) and pulmonary hypertension are complications of sickle cell disease (SCD). The effects of pre-existing respiratory symptoms on the frequency of complications of SCD, such as vaso-occlusive crises and ACS, have not been fully explored. Many therapeutic options exist for patients with reactive airway disease or other recurrent respiratory problems. Control of associated symptoms may help prevent the occurrence of ACS and other sickle cell-related problems. We compared the prevalence of respiratory symptoms in SCD patients compared to patients with other hematological disorders. Methods: Two questionnaires (one for patients with SCD, one for patients with other hematological disorders) were developed, which included questions regarding respiratory symptoms (especially wheezing and cough, frequency of these symptoms, previous diagnosis of asthma), personal history and environmental exposure. The study was approved by the Institutional Review Board, and patients and their caregivers were interviewed during a routine visit to the outpatient hematology clinic after giving informed consent. Results: To date, 124 subjects have been interviewed (62 males and 58 females, ages 3–18 years, mean age 10.1yrs), and 120 questionnaires were evaluable, including 59 from patients with SCD and 61 from the comparison group. Respiratory symptoms (wheezing and cough) were more frequent in SCD patients compared to patients with other hematological diseases. Wheezing was present in 34 (58%) SCD patients and in 20 (33%) patients in the other group (p<0.01). Twelve patients (20%) in the SCD group missed school due to respiratory problems (over half of them missed more than 7 days of school) compared to 4 (6%) patients (only 1 missing school for more than 7 days) in the other group (p<0.04). Hospitalization due to respiratory problems before the age of 2 years was more common in SCD patients: 23 (39%) compared to 8 (13%) in other hematological patients (p<0.003). Conclusions: The prevalence of pulmonary symptoms is higher in patients with SCD compared to patients with other hematological disorders and associated with frequent hospitalizations and school absences.

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SICKLE CELL ANEMIA IN QUILOMBOLAS: A LITERATURE REVIEW

Revista de Patologia do Tocantins ◽

10.20873/uft.2446-6492.2018v5n1p34 ◽

2018 ◽

Vol 5 (1) ◽

pp. 34

Author(s):

Renan Pires Ferreira Borges ◽

Rafael Felipe Carvalho Canutto ◽

Kassita Alvarenga Gomes ◽

Carlos Alberto Rodrigues Junior ◽

Fellipe Camargo Ferreira Dias ◽

...

Keyword(s):

Sickle Cell Disease ◽

Sickle Cell ◽

Sickle Cell Anemia ◽

Structural Changes ◽

Sickle Cell Trait ◽

Cell Disease ◽

Hematological Disorders ◽

The North ◽

Generic Term ◽

Abnormal Hemoglobin

Introduction: Sickle cell disease is a generic term that encompasses a set of hematological disorders linked to structural changes in blood cells, leading to the production of an abnormal hemoglobin called HbS, the 'S' being derived from English sickle. The objective of this study was to discuss the profile of sickle cell anemia in quilombola communities by reviewing the existing literature in order to provide updated data to professionals dealing with this population. Development: The prevalence of HbS heterozygotes in Brazil is higher in the North and Northeast regions, between 6% and 10%, and considerably lower in the South and Southeast regions, with prevalence between 2% and 3%. In this study, it was found that 6.6% to 11.5% of the population of quilombolas in the state of Tocantins had abnormal hemoglobins. Conclusion: Few studies evaluate the prevalence of hemoglobinopathies in quilombola communities. Since quilombolas usually live in isolated communities of society, the chances of marriages between individuals with sickle cell trait are greater than in the general population, thus increasing the probability of being born to individuals affected by the disease. Keywords: Sickle cell disease, Quilombolas, Epidemiology. RESUMO Introdução: Doença falciforme é um termo genérico que engloba um conjunto de desordens hematológicas ligadas a alterações estruturais das células sanguíneas, levando à produção de uma hemoglobina anormal denominada HbS, sendo o ‘S’ derivado do inglês sickle. O objetivo deste estudo foi abordar o perfil da anemia falciforme nas comunidades quilombolas por meio de revisão da literatura existente, a fim de fornecer dados atualizados aos profissionais que lidam com essa população. Desenvolvimento: No Brasil, a prevalência de heterozigotos HbS é maior nas regiões do Norte e Nordeste, entre 6% e 10%, e consideravelmente menor nas regiões Sul e Sudeste, com uma prevalência entre 2% e 3%. Neste estudo, encontrou-se que 6,6% a 11,5% da população de quilombolas no estado do Tocantins apresentaram hemoglobinas anormais. Conclusão: Poucos estudos avaliam a prevalência de hemoglobinopatias em comunidades quilombolas. Visto que os quilombolas costumam viver em comunidades isoladas da sociedade, as chances de ocorrerem casamentos entre indivíduos com traço falciforme, tornam-se maiores que na população em geral, aumentando assim a probabilidade de nascerem indivíduos acometidos pela doença. Palavras-chave: Doença falciforme, Quilombolas, Epidemiologia.

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