Hematology

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Most hematological disorders have a genetic background. Access knowledge and testing of hundreds of unique genes related to hematological disorders.

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Haematological diseases are a wide range of groups that include several different conditions, from anemia, thalassemia to autoimmune diseases, myeloproliferative diseases and metabolic disorders (see the table below). Most hematological diseases have a genetic background and we know hundreds of unique genes associated with hematological disorders. The causes of anemia are multifactorial, but some of the most common diseases are limited to erythrocytes, especially hemoglobinopathies. Hemoglobinopathies are among the most common monogenic diseases, with more than 1,000 different mutant alleles (mostly autosomal recessive) that have been identified at the molecular level1,2. Many hereditary conditions of the blood can be treated with the correct diagnosis.

 

Spherocytosis are hereditary and heterogeneous anemias characterized by spherical erythrocytes. This disorder can be autosomal dominant or recessive. It is the most common hereditary anemia in individuals from northern Europe and America, where it affects approximately 1 in 20003.

 

Severe combined immunodeficiency (SCID) is a group of life-threatening genetic disorders characterized by a blockage in T-cell differentiation that is variably associated with the abnormal development of other lymphocyte lineages . At least eight diseases can be distinguished according to the phenotype and inheritance pattern; the general frequency is estimated at 1 in 75,000-100,000 births4,5. SCID linked to X represents 30-40% of patients with SCID6. Haematological diseases also include haemostasis disorders, with platelet disorders and / or coagulation proteins, which usually cause excessive bleeding. Von Willebrand's disease is the most common hereditary bleeding disorder, with a prevalence of 1-2% 7. It is normally inherited in an autosomal dominant manner. Other examples include hemophilia A and B and congenital afibrinogenemia.

Reasons for Reference

 

  • Individuals presenting the most common symptoms of a hematological disorder such as abnormalities in cell count numbers for different lineages (anemia, lymphopenia, neutropenia, thrombocytosis, etc.), coagulation disorders, abnormal morphology of blood cells / bone marrow that is.

 

  • Individuals without a positive family history but with symptoms that resemble the indication of a specific disease.

 

  • Individuals with a negative family history, but suspicious, to perform genetic counseling (prenatal analyzes are recommended in families of affected individuals)

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