Sickle cell disease perspective genetic anthology

Bacteremia in sickle hemoglobinopathies. Sickle cell disease in India. The data generated by such studies would allow definition of the role of hydroxyurea therapy, of blood transfusion, of bone pain crises, of stroke and priapism, the nature of infections, and the possible role of infection prophylaxis.

More effective means of cellular rehydration would also be useful, as would gene therapies that directly affect the erythrocyte-producing bone marrow, stimulating the production of red cells devoid of hemoglobin-S or C. Improved survival in homozygous sickle cell disease: Lack of tissue oxygen causes attacks of severe and sudden pain.

The social implications of Sickle Cell Disease have been seen in a myriad of ways such as caregiving, community perceptions, and the health care system. Sickle cell disease in Orissa State, India.

Splenic function in sickle-cell disease in the Eastern Province of Saudi Arabia. Sickle Cell Disease SCD is inherited which means that the disease is passed by genes from parents to their children. Kar BC, Devi S. Sickle cell disease in India Early studies 22 described SS disease with higher levels of foetal haemoglobin, more frequent alpha thalassaemia, higher total haemoglobin and lower reticulocyte counts and persistence of splenomegaly compared to Jamaican SS disease.

Sickle cell disease

Nigeria is one of the areas most severely affected by SCD. A separate and fourth occurrence of the mutation was seen around the Arabian Gulf and India and designated the Arab-Indian or Asian haplotype 4. He died of pneumonia in and is buried in the Catholic cemetery at Sauteurs in the north of Grenada.

Where malaria is common, carrying a single sickle cell allele trait confers a heterozygote advantage: In India, the disease is largely undocumented. The social and societal implications are far reaching and significantly negatively impact the African-American and Hispanic communities.

Sometimes striking differences have been reported, a tribal population in Valsad having milder disease than a non-tribal population in Nagpur 28 and attributed to extremely high frequencies of alpha thalassaemia in the tribal group.

Hemoglobin is a protein in red blood cells that carry oxygen throughout the body. The clinical trials will assess the safety and initial evidence for efficacy of an autologous transplant of lentiviral vector-modified bone marrow for adults with severe sickle cell disease.

SCD treatment options are not widely available to those afflicted by the disease. Prior to birth, amniotic fluid can be also tested to diagnose SCD. The study of this major genetic disease has sparked interest in genetics as well as bringing us a greater understanding of genetic transmission of hemoglobin mutations.

Garrett, PhD; Malcolm A. It has therefore been recommended that people with sickle cell disease living in malarial countries should receive anti-malarial chemoprophylaxis for life.

A potentially severe syndrome. The pneumococcus is a fastidious organism, readily overgrown by other bacteria and possibly underestimated because of antibiotics preceding blood cultures; however, there is much information on nasopharyngeal carriage in India 26 and since this usually precedes invasive disease, the apparent lack of pneumococcal septicaemia in Indian sickle cell disease may reflect persisting splenic function.

The interlaced fate of genes defies any developmental logic that strict Darwinians may be inclined to impose. The patient with suspected acute chest syndrome should be admitted to the hospital with worsening A-a gradient an indication for ICU admission.Summary: This paper deals with sickle-cell disease (SCD, also known as sickle cell anemia) from a genetic point of view.

The disease and its genetic trait do not conform well to the traditional model of genetic inheritance, which required that the medical establishment rethink its ideas about genetic concepts like “dominant” and “recessive”. Sickle cell disease is caused by a mutation in the hemoglobin-Beta gene found on chromosome Hemoglobin transports oxygen from the lungs to other parts of the body.

Red blood cells with normal hemoglobin (hemoglobin-A) are smooth and round and glide through blood vessels.

Sickle cell anemia is the disease that describes those with two hemoglobin S genes, hemoglobin SS. Sickle cell trait is the condition where the hemoglobin S gene is inherited from one parent and a normal hemoglobin gene is inherited from the other parent. People with sickle cell trait are generally healthy and symptom free.

Sickle Cell Disease: A Genetic Perspective

Sickle cell disease (SCD) is the most common genetic disease in the United States inherited as an autosomal recessive disorder, where approximately 70, individuals have sickle cell disease. Acute painful vaso-occlusive crisis (VOCs) is one of the common complications of SCD that influences overall survival (Platt, Thorington et al.

Sickle cell disease in India: A perspective

). Addressing the question of intrinsic severity of patients in Central India was the focus of a study recently completed in Akola Medical College, Maharastra, where 40 per cent of patients with sickle cell disease were found to have sickle cell-beta thalassaemia and of the 54 per cent with SS disease, alpha thalassaemia occurred in only 16 per cent 29 compared with over 50 per cent observed in Odisha 22.

Smith et al. note the association of cranial moyamoya arteriopathy with sickle cell disease, and Milunsky describes the importance of preconception genetic counseling, carrier detection, and prenatal and preimplantation genetic diagnosis. These suggestions all highlight the complexity of sickle cell disease and of its prevention and management.

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Sickle cell disease perspective genetic anthology
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