The Blood Test in the Diagnosis of Hemoglobinopathies

The Hemoglobinopathies (alpha and beta hemoglobin variants and talassemias) are a group of inherited disorders of the blood, which present greater prevalence throughout the world and are still an important public health problem.

The CBC is one of the complementary examinations most frequently ordered diagnostic and allows for a quantification of the cellular elements of the blood: erythrocytes (red blood cells), leukocytes (white blood cells) and platelets. May be prescribed by the attending physician to monitor the general health, lose or diagnosing a medical condition (e.g., infection, anemia, hemoglobinopathy, and including leukemia) before signs and symptoms (such as fatigue, pain, fever, inflammation and bleeding) and to monitor an illness or a medical treatment.

The Hemoglobinopathies (alpha and beta hemoglobin variants and talassemias) are a group of inherited disorders of the blood, characterized by changes of hemoglobin, the substance that gives color to the red blood cells, and which has the function of carry oxygen throughout the body. Are hereditary diseases that present greater prevalence throughout the world and are still an important public health problem.

The Talassemias are a group of disorders that are characterized by a partial or total reduction in the production of one of the globin chains (Alpha or beta). If the reduction is partial to person bearer of thalassaemia and have no disease. If there is a total or almost total absence with pregnancy fashion, the person has a thalassaemia major or intermediate, respectively, which are manifested by a severe anemia dependent on blood transfusions.

The sickle-cell disease or Sickle Cell Anemia is a disease in which there is the production of an abnormal hemoglobin (Hb S) that, in certain situations, modifies the red blood cells, getting these with a shape that resembles a scythe. People who inherit only the change of only one parent are carriers of sickle-cell disease and do not have the disease. Those who inherit the genetic alteration of both parents are patients. Severe anemia, frequent and painful crises tend to have infections are the most visible manifestations of this disease.

The severe forms of Hemoglobinopathies are most frequently asked in Portugal – sickle-cell disease, Beta Thalassaemia Major and Intermedia – have an autosomal recessive transmission. Carriers of a mutation (heterozygotes) are not patients, however, when married to each other, have a probability of 25% in each pregnancy, cause children with both mutations (homozygous), who are sick with a severe clinical picture, usually with high morbidity and mortality.

In this context, are recommended (Circular DGS No. 18 of Regulations/DSMIA of 2004) detection and early information, preferably pre-concecional, adults (heterozygous) of Hemoglobinopathies, identification and genetic counseling of couples at risk and, when necessary, to prenatal diagnosis.

Pregnancy is a period of contact with the health services and is a unique moment for assessing the State of maternal health. The lab tests ordered in prenatal period are intended to foil, prevent or treat situations likely to endanger the health or fetal and maternal. When there are in the family history cases of Hemoglobinopathies, this screening should be performed on the mother and, if the result is positive, the study should also be carried out in the parent. The detection of Hemoglobinopathies is made based on the CBC, clinical analysis made from the collection of blood from a vein in the forearm, and the study of hemoglobins.

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