Sickle Cell Disease

Definition

HämoglobinSickle Cell Disease is a disorder of the “haemoglobin” protein. Haemoglobin occurs in red blood cells and determines their red colour. Sickle Cell Disease is a genetic disorder which is passed on through generations. A homozygote patient is distinctively sick, while the heterozygote is mostly healthy and merely the carrier.

“Compound haemoglobinopathies” also exist. The concerned patients have Sickle Cell Disease, plus another disease in which the haemoglobinFor example, haemoglobin S and thalassaemia, or Haemoglobin S and Haemoglobin C is abnormal. 

In general, homozygote patients or compound haemoglobinopathy patients are referred to as “Sickle Cell Disease patients”, and heterozygote patients are referred to as “carriers”.

In Sickle Cell Disease the haemoglobinHaemoglobin is the carrier protein for oxygen in the blood is altered in such a way, that it leads to a change in shape of the erythrocytesred blood cells.This sickled shape gives the disease its name. The sickled erythrocytes clog small blood vessels, and consequently a lack of oxygen supply occurs. This leads to organ-specific symptoms and the so called "sickle-cell-crisis". Furthermore an increased destruction of red blood cells occurs, leading to anaemiapoorness of red blood cells. 

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Thalassemia

Definition

Thalassemia is a genetic haemoglobinopathy (A disease of the red blood pigment haemoglobin). The name thalassemia is derived from the Greek thalassa = sea and (h)aima = blood. The disease was discovered and described first by an American Doctor Cooley who treated Italian patients.

The haemoglobin is the transport molecule of oxygen in the blood. It consists of four globin chains. Adults have 2 α- and 2 β-globin chains. Thalassemia is characterised by many different mutations (genetic errors) which cause a change in the structure of the haemoglobin protein. (A gene is the construction plan for a protein. Every protein has a specific task. The protein haemoglobin binds oxygen in the lungs and transports it to the places in the body which need the oxygen, e.g. the muscles.) Depending on whether the α- or the β- globin chain contains the mutation, one describes the α- or β- Thalassemia. As a safety precaution, the body has various copies of these genes. If however both parents pass on the same mutated gene, the consequences and constraints are much more serious for the patient. If a person has sufficient functioning copies of the gene, and if only one faulty gene is inherited from the mother or the father, a thalassemia minor is described. With the thalassemia minor the patients seldom have symptoms, a slightly low haemoglobin value occurs and a treatment is not required. These patients are called carriers. If however, no or only few functioning gene copies are present (also if haemoglobin mutations are inherited from both mother and father), a serious thalassemia or a Thalassemia major is described. Often a treatment from the 9th-12th month of life is inevitable. The consequences of the disease are otherwise grave or even fatal. Thalassemia intermedia is an intermediate form of the disease, which requires treatment only in certain stages of life. The β- Thalassemia is more common than the α-Thalassemia. A possible explanation for the existence of the grave Thalassemia major is, that the carriers have a benefit against Malaria disease.

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