Genetic Blood Disorders



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Genetic Blood disorder is a state where problem is with blood cells and blood components like white blood cells (WBC), circulating platelets and red blood cells (RBC). Any depletion or damaged platelets cause abnormalities in clot formation. Whereas these red blood cells carry oxygen to tissues play a vital role in organ survival decreased oxygen carrying capacity of RBC leads to some disorders like fatigue, shortness of breath, auto immune haemolytic anaemia and also lack of oxygenated blood to brain. Bone marrow dysfunction is the main cause for low levels of white blood cells in some cases WBC gets destroyed by auto immune disorders there by leading to decreased levels and increasing the sort of infections attack.

Genetic Blood Disorders

  • Thrombocytopenia
  • Fibrinolytic Disorder
  • Sickle Cell Anemia
  • Haemophilia.

Lymphoma.

Myelodysplastic syndrome.

Von Willebrand disease.

Plasma cell myeloma.

Thalassemia.

Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person's parents.[2] The most common type is known as sickle cell anaemia (SCA).[2] It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells.[2] This leads to a rigid, sickle-like shape under certain circumstances.[2] Problems in sickle cell disease typically begin around 5 to 6 months of age.[1] A number of health problems may develop, such as attacks of pain ("sickle cell crisis"), anemia, swelling in the hands and feet, bacterial infections and stroke.[1] Long-term pain may develop as people get older.[2] The average life expectancy in the developed world is 40 to 60 years.[2]

Lymphoma- is a group of blood malignancies that develop from lymphocytes (a type of white blood cell). The name often refers to just the cancerous versions rather than all such tumours. Signs and symptoms may include enlarged lymph nodes, fever, drenching sweats, unintended weight loss, itching, and constantly feeling tired. The enlarged lymph nodes are usually painless. The sweats are most common at night.

A myelodysplastic syndrome (MDS) is one of a group of cancers in which immature blood cells in the bone marrow do not mature, so do not become healthy blood cells. Early on, no symptoms typically are seen. Later, symptoms may include feeling tired, shortness of breath, bleeding disorders, anemia, or frequent infections. Some types may develop into acute myeloid leukemia.

Von Willebrand disease (VWD) is the most common hereditary blood-clotting disorder in humans. An acquired form can sometimes result from other medical conditions. It arises from a deficiency in the quality or quantity of von Willebrand factor (VWF), a multimeric protein that is required for platelet adhesion. It is known to affect several breeds of dogs as well as humans. The three forms of VWD are hereditary, acquired, and pseudo or platelet type. The three types of hereditary VWD are VWD type 1, VWD type 2, and VWD type 3. Type 2 contains various subtypes. Platelet type VWD is also an inherited condition.

Multiple myeloma (MM), also known as plasma cell myeloma and simply myeloma, is a cancer of plasma cells, a type of white blood cell that normally produces antibodies. Often, no symptoms are noticed initially. As it progresses, bone pain, anemia, kidney dysfunction, and infections may occur. Complications may include amyloidosis.

Haemophilia is a mostly inherited genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding. This results in people bleeding for a longer time after an injury, easy bruising, and an increased risk of bleeding inside joints or the brain.

Thalassemias are inherited blood disorders characterized by decreased hemoglobin production.Symptoms depend on the type and can vary from none to severe. Often there is mild to severe anemia (low red blood cells or hemoglobin).Anemia can result in feeling tired and pale skin.There may also be bone problems, an enlarged spleen, yellowish skin, and dark urine. Slow growth may occur in children.

Thrombocytopenia is a condition characterized by abnormally low levels of platelets, also known as thrombocytes, in the blood.

A normal human platelet count ranges from 150,000 to 450,000 platelets per microliter of blood. It is the most common coagulation disorder among ICU patients and is seen in 20% of medical patients and a third of surgical patients. Values outside this range do not necessarily indicate disease. One common definition of thrombocytopenia requiring emergency treatment is a platelet count below 50,000 per microliter. Thrombocytopenia can be contrasted with the conditions associated with an abnormally high level of platelets in the blood: thrombocythemia (when the cause is unknown), and thrombocytosis (when the cause is known).

The bleeding phenotype of fibrinolytic disorders is characterized by delayed bleeding after trauma, surgery and dental procedures. Bleeding in areas of high fibrinolytic activity is also common, such as menorrhagia and epistaxis. Patients with α2‐AP deficiency present with the most severe bleeding episodes.


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