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Thalassemia-Overview

Also called Mediterranean anemia, thalassemia is an autosomal recessive blooddisease that is inherited (which means that it is passed through the family). This condition causes the body to make fewerhealthy red blood cells and less hemoglobin than normal. Hemoglobin is aniron-rich protein in red blood cells. It carries oxygen to all parts of thebody. Hemoglobin also carries carbon dioxide from the body to thelungs, where it's exhaled. This condition usuallyends in the destruction of red blood cells, which leads to anemia.

Types of Thalassemia

Hemoglobin is made up of two proteins, one being alpha globin, and the otherbeta globin. Thalassemia occurs when there is a defect in the gene that helpscontrol the production of one of these proteins. Accordingly, the two types ofthis condition are alpha talassemia (which occurs when a gene or genes linkedto the alpha globin protein are missing or have changed), and beta talassemia(when gene defects affect the production of the beta globin protein.

Both types have subtypes: talassemia major and talassemia minor. If one has inheritedthe defective gene from both parents they develop talassemia major, and one hasinherited the defective gene from only one parent, they will most likely havetalassemia minor. However, people with this subtype are usually only carriersand never develop any symptoms.

The risk factors for getting this condition are: familyhistory (as established, it is passed from parents to children), and ancestry(it has been noted that people of Greek, Italian, Middle Eastern, African, andsouthern Asian ancestry are more prone to getting thalassemia).

Complications

There have been cases in which this condition has caused other health problems.These include: infections (whilethalassemia can increase the risk of a person developing a blood-borneinfection significantly), bone deformities (it causes the bone marrow toexpand, thus affecting the outer layer of the bone), slowed growth rate (it canslow down children’s growth), heart problems, and splenomegaly (an enlargedspleen; when red blood cells are destroyed, the spleen has to work harder tofilter such unwanted material from the body; this causes it to enlarge).

Symptoms

The symptoms of talassemia include: dark urine, paleness, weakness, tiredness, and fatigue, irritability, shortness of breath, facial bone deformities,jaundice (the skin turning yellow), slow growth in children, protrudingabdomen, etc.

It is important that a person consults a doctor as soon as they have noticedany of these symptoms.

Treatment

The treatment will usually depend on the type and severity of the disease. Formild symptoms not any treatment might be necessary. However, if talassemia issevere, the patient might need regular blood transfusions.

The doctor will determine the appropriate course of treatment according to thesymptoms.

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