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A Circulatory Disease: Sickle Cell Anaemia

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Introduction

A Circulatory Disease: Sickle Cell Anaemia Sickle Cell Anaemia isn't really a "disease" like AIDS or TB; it is more of a disorder. The main factor in this disorder is a protein called Haemoglobin. This protein is found in all red blood cells (erythrocytes1), and it is used fort he transportation of oxygen around the body to places where it is needed for respiration I.e. cells. As Haemoglobin is a protein it consists of one or more polypeptide chains that are folded into a complex three-dimensional shape. The shape is determined by the arrangement of the amino acids in the polypeptide chains. Haemoglobin is an example of a quaternary structured protein in that it is made up of more than one polypeptide chain. Each molecule of haemoglobin is consisted of up to four polypeptide chains. From the diagram you can clearly see that the shape of the haemoglobin molecule is rounded, this is referred to as a "globular" protein. Globular proteins are soluble and are important in the metabolism of living organisms. ...read more.

Middle

One copy from the Mother, and the second from the Father. A person that is said to have the Sickle Cell Trait, has one gene which carries instructions to make sickle haemoglobin (HbS), and the other gene with the instructions to make normal haemoglobin (HbA). This person is therefore a carrier of the sickle haemoglobin gene. A person with Sickle cell Trait, has enough normal haemoglobin in their blood to keep the red blood cells flexible and have no symptoms of the sickle cell disorder. One thing that a person with sickle cell trait must do is to be careful when doing activities where there are less than normal oxygen levels, for example scuba diving. As less normal haemoglobin is present to transport sufficient oxygen to where it is required. If one parent had the sickle cell trait and the other had normal haemoglobin then the offspring would be: If both parents have the sickle cell trait then the offspring would be: On the other hand, if one parent had the sickle cell trait, and the other had the actual sickle cell disease, the offspring would be: When both copies of the haemoglobin gene carry instructions to make the sickle haemoglobin, sickle cells will occur as a result. ...read more.

Conclusion

to prevent and treat painful events * Blood transfusions - for anaemia, and to prevent stroke; transfusions are also used to dilute the HbS with normal red blood cells to treat chronic pain, acute chest syndrome, splenic sequestration, and other emergencies. * Folic acid (to help prevent severe anaemia) * Hydroxyurea - a medication recently developed that may help reduce the frequency of pain crises and acute chest syndrome; it may also help decrease the need for frequent blood transfusions. The long-term effects of the medication are unknown. * Bone marrow transplant has been effective in curing some children with sickle cell disease; the decision to undergo this procedure is based on the severity of the disease and a suitable bone marrow donor. These decisions need to be discussed with a paediatric blood specialist. Sickle Cell Anaemia is a terrible hereditary disease that can't be completely cured. But as socio-economic conditions improve and as our knowledge of the human genome broadens, we can only hope gene manpulation will prevent this disorder from causing pain around the world. ...read more.

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