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SICKLE CELL ANAEMIA

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by

Barbara Adjei- Mensah

on 16 October 2012

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Transcript of SICKLE CELL ANAEMIA

INTRODUCTION Sickle cell disease is caused by a point mutation in the 6th codon of the beta globin chain that leads to the replacement of a glutamate residue with a valine residue.
Locus: 11p15.5 - The HBB gene is found in region 15.5 on the short (p) arm of human chromosome 11.
The abnormal physiochemical properties of the resulting sickle haemoglobin(HbS) are responsible for the disease. Genetic Basis of theDisease References SICKLE CELL
ANAEMIA Anaemia is a reduction in the total circulating red blood cell mass, which causes a reduced oxygen- carrying capacity and tissue hypoxia.

Haemoglobin is composed of two pairs of globin chains. Normal adults contain:
HbA- two alpha and two beta chains
HbA2- two alpha and two delta chains
HbF- two alpha and two gamma chains

Sickle cell anaemia is an autosomal recessive disorder and is caused by a defect in the HBB gene which codes for haemoglobin.

Mitchell et al. Pocket Companion to Robbins and Cotran Pathologic Basis of Disease, 8th Edition, Pages 343-347 Sickle haemoglobin causes the cells to develop a sickle, or crescent, shape instead of the doughnut or disc shape characteristic of normal red blood cells. Roughly two million individuals are heterozygous for HbS, a largely asymptomatic condition known as sickle cell trait. Carriers of the sickle cell trait (ie, heterozygotes who carry one Hb S allele and one normal adult hemoglobin [HbA] allele) have some resistance to the often-fatal malaria caused by Plasmodium falciparum. U.S. Department of Energy (DOE) Human Genome Project Information Web site. The DOE Biological and Environmental Research The clinical course of sickle cell anemia does not follow a single pattern; some patients have mild symptoms, and some have very severe symptoms. CLINICAL FEATURES OF SICKLE CELL ANAEMIA GROUP MEMBERS Lawrence Bonnah Jnr.
Makafui Dawoe
David Agyemang- Yeboah
Lawrence Agyeman
Bryan Eyole Meoto
Henry Adjei- Mensah Ernestina Okoe- Martey
Cynthia Opoku
Elsie Amo- Mensah
Nana Adwoa Pinamang Abu-
Bonsra
Barbara Adjei- Mensah
Eseene Nyaku TREATMENT OF SICKLE CELL ANAEMIA Bone marrow transplant offers the only potential cure for sickle cell anemia. As a result, treatment for sickle cell anemia is usually aimed at avoiding crises, relieving symptoms and preventing complications. Treatments may include medications to reduce pain and prevent complications, blood transfusions and supplemental oxygen.

Medications used to treat sickle cell anemia include:
Antibiotics- Taking antibiotics helps patients with sickle cell anaemia fight infections.
Pain-relieving medications for use during a sickle crisis.
Hydroxyurea- Hydroxyurea seems to work by stimulating production of fetal hemoglobin — a type of hemoglobin found in newborns that helps prevent the formation of sickle cells. Blood transfusions- In a red blood cell transfusion, red blood cells are removed from a supply of donated blood. These donated cells are then given intravenously to a person with sickle cell anemia. This increases the number of normal red blood cells in circulation, helping to relieve anemia. Supplemental oxygen- Breathing supplemental oxygen through a breathing mask adds oxygen to the blood and aids breathing. Treating complications- Doctors treat most complications of sickle cell anemia as they occur. Note the exaggerated height of the child's skull ("towering") and the indentations ("bosses") on either side. This is due to hyperactivity of the bone marrow in replacing erythrocyte loss due to sickling.
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