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They are caused by alterations in the production or function of components of the blood, such as red blood cells, white blood cells, or platelets.
There are more than 20 million patients living with inherited blood disorders worldwide.
Blood disorders can cause various symptoms, such as swelling and redness of
extremities (poor blood clot), increased bleeding without significant injury (hemophilia), or pale skin and fatigue (anemia). Interestingly, blood disorders can show overlapping symptoms with other disorders, such as weakness and shortness of breath (in anemia) can occur in heart and lung disorders as well.
Common blood disorders include hemophilia, which is caused defective blood clotting
resulting in longer bleeding after an injury; beta thalassemia, which is caused by reduction of the production of hemoglobin leading to anemia; and sickle cell disease, in which an abnormality in the hemoglobin can cause blood cells to become rigid and sickle-shaped instead of their typical round shape. Early identification of individuals at risk can help establish the right clinical management plan.
For conditions like thalassemia and sickle cells is crucial because these conditions are inherited and can be passed from one generation to the next.
By identifying carriers early in pregnancy, healthcare providers can offer appropriate pre-natal care and support to reduce the risk of passing on these disorders to the baby. The screening process involves a blood test, which is best conducted before 10 weeks of pregnancy to allow for further testing if the initial result indicates a carrier status. This early identification is important for making informed decisions about pregnancy and for providing the necessary support to the parents and the unborn child.
We offer comprehensive and syndrome-specific panels testing for blood disorders. The test can offer a molecular genetic diagnosis of a blood disorder that is observed or predicted in you or a family member.
Please reach us at contact@genatechs.com if you cannot find an answer to your question.
F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, GGCX, HABP2, HRG, MTHFR, PLAT,
PROC, PROS1, SERPINC1, SERPIND1, THBD.
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