Diagnosis of Blood Disorders

Many people who are having or had family members with hemophilia (hereditary blood disorder), it is recommended they must have go for testing of their baby boys soon after birth or preferable foetus are tested for disease before birth. Facts state that about one-third of babies, who are diagnosed with hemophilia, do not have any family members with the disorder. Diagnosis mainly includes screening tests and clotting factor tests etc. Screening tests are blood tests to check that the blood is clotting properly or not. Clotting factor tests, also called as factor assays, are highly required to diagnose bleeding disorders. A complete blood count (CBC) is a blood test that is useful to evaluate your overall health and to detect a wide range of blood disorders, including leukemia, anemia and blood infections. A reticulocyte count is a blood test which measures how fast red blood cells (RBCs) called reticulocytes are made by the bone marrow and released into the Blood stream. The reticulocyte count rises with lots of blood loss or in certain diseases in which (RBCs) red blood cells are destroyed prematurely, like hemolytic anemia.oietic Stem Cell Transplantation May 21-23, 2015, Spain

If doctors suspect hemophilia A or B in a young child, they will do some simple lab tests. They will take a blood sample, and measure the amount of factor VIII and factor IX in the blood. The platelet (a blood particle essential for the clotting process) count should be measured as well as two indices of blood clotting, the prothrombin time (PT) and activated partial thromboplastin time (aPTT). A hemoglobinopathy evaluation is used to detect abnormal forms and/or relative amounts of hemoglobin, the protein found in all red blood cells that transports oxygen.

  • Complete blood count
  • Screening tests
  • Reticulocyte count
  • Bone Marrow Examination and biopsy
  • Prenatal diagnosis
  • Clotting Factor Tests: Hemophilia
  • Prothrombin and thromboplastin time
  • Preimplantation diagnosis for hemophilia
  • Hemoglobinopathy

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