Thalassemia is a blood disorder passed down through families in which the body makes abnormal hemoglobin, the protein in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells which leads to anemia.Age/sex prevalance of Thalassemia
Thalassaemia occur in same frequency in males and females.Thalassemia major becomes more evident in the first year of life.
Thalassemia condition is encountered in individuals of all races.
• Alpha Thalassemia:
It occurs when genes related to the alpha globin proteins are missing or mutated.
• Beta Thalassemia:
It occurs when similar gene defects affect production of the beta globin protein.
Both Alpha and Beta thalassemia include following two forms:
• Thalassemia major:
It occurs due to defective gene inheritance from both parents. If untreated children usually die between one and eight years of age.
• Thalassemia minor (Cooley’s anemia):
It occurs if one inherits defective gene only from one parent. People with thalassemia minor are carriers of the disease and do not show symptoms.
The cause of thalassemia is the defects in the genes that make hemoglobin and other people on risk are:
• With Family history of Thalassemia
• Certain ancestry like Italian, Greek, Middle East, Asian and African are prone to this disease.
• Growth failure
• Shortness of breath
• Pale appearance
• Dark urine
• Facial bone deformities
• Slow growth
• Abdominal swelling
• Irregular menses
• Zinc deficiency
Signs and symptoms vary with the severity of Thalassemia. In few cases babies show symptoms immediately at birth and some shows signs and symptoms of Thalassemia during the first 2years of life; and some people who have only one affected hemoglobin gene don’t experience any Thalassemia symptoms.
• Complete case history
• Physical examination
• CBC (Complete Blood Count) reveals anemia
• Hemoglobin electrophoresis
• DNA analysis
• Hemoglobin level
• Complete blood analysis
• Prenatal tests includes chorionic villus sampling (done during 11th week of pregnancy by removing a tiny piece of the placenta for evaluation) and Amniocentesis (at 16th week of pregnancy by taking sample of Fluid surrounding fetus)
• Blood transfusion
• Stem cell transplantation/ bone marrow transplantation for severe thalassemia
• Genetic counseling
• Iron supplements
Thalassemia severity affects its prognosis. Less severe is thalassemia better is outcome; if thalassemia is severe it can result in heart failure at early age of 20-30 years unless one goes under regular blood transfusion and therapy to remove excess iron from the body.
Genetic counseling and prenatal screening can help people with family history of thalassemia and who are planning to have children.
• Iron overload
• Enlarged spleen (splenomegaly)
• Bone deformities (due to bone marrow expansion which causes bones widening)
• Slowed growth rate (anemia can cause growth to slow; puberty may also be slow)
• Heart problems (congestive heart failure, arrhythmias)
• Diet adequate calcium and vitamin D
• Avoid excess of iron without doctors advice
• Eat a healthy and balanced nutritious diet
• Protect yourself from infection; wash hands on frequent intervals and avoid being in touch with sick people.
• Genetic counseling
• Anaemic patient where liver and spleen are at fault.
• Enormous enlargement of the spleen.
• Violent dyspnea.
• Worse motion lying on left side.
• Patient craves for sour and indigestible things.
• Vertigo and palpitation.
• Swelling of abdomen.
• Patient has tubercular diathesis.
• Young weak people with anaemia.
• Plae face.
• Puffiness of extremities.
• Mucous membranes are pale.
• Gastric and menstrual troubles.
• Patient likes to be in open air.
• No thirst.
• Dizziness on rising.
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