Wednesday, April 8, 2009

Signs and symptoms of Thalassemia

SIGNS AND SYMPTOMS OF THALASSEMIA
Signs and symptoms of thalassemias are due to lack of oxygen in the bloodstream. This occurs because the body doesn't make enough healthy red blood cells and hemoglobin. The severity of symptoms depends on the severity of the disorder
Alpha thalassemia silent carriers
· generally those who are the silent carriers have no signs or symptoms of the disorder. This is because the lack of alpha globin protein is so small that hemoglobin works normally.
Alpha or Beta Thalassemia trait
· can result in mild anemia
· Mild anemia can make you feel tired
· However most people with this type of thalassemia have no signs or symptoms.
Beta Thalassemia Intermedia
· Can result in mild to moderate anemia
· Also associated with other health problems such as:
· Slowed growth and delayed puberty. Anemia can slow down a child's growth and development.
· Bone problems. Thalassemia may make bone marrow (the spongy material inside bones that makes blood cells) expand. This causes wider bones than normal. Bones also may be brittle and break easily.
· An enlarged spleen. The spleen is an organ that helps your body fight infection and remove unwanted material. When a person has a thalassemia, the spleen has to work very hard. As a result, the spleen becomes larger than normal. This makes anemia worse. If the spleen becomes too large, it must be removed.









Beta thalassemia major
· Pale appearance
· Poor appetite
· Dark urine
· Slowed growth and delayed puberty
· Jaundice(a yellowish color of the skin or whites of the eyes)
· Enlarged spleen ,liver, heart
· Bone deformities (especially bones in the face)
· Pallor
· Fatigue
· Tiredness
· Weakness
· Shortness of breath
· Blood in urine
· Skull deformity
· Skeleton deformity
· Thickening skull
· Thickening facial bone
· lack of beta globin causes a life-threatening anemia
· Therefore requires regular blood transfusions
· Life long transfusions lead to iron overload
· Must be treated with chelation therapy to prevent early death from organ failure.
Haemoglobin H disease
— Severe anemia
— Fatigue
— Pale appearance
— Poor appetite
— Dark urine
— Slowed growth and delayed puberty
— Jaundice(a yellowish color of the skin or whites of the eyes)
— Enlarged spleen
— Bone deformities (especially bones in the face)
E Beta Thalassemia
— Has similar symptoms to Beta Thalassemia Intermedia but at times the symptoms can be as severe to Beta Thalassemia Major

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