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Top100 Diseases

 hematological diseases

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Anemia is a state in which the level of hemoglobin in the blood is below the normal range for the patient's age and sex: 13.5-18.0 g/dL in males and 11.5-16.0 g/dL in females. Causes are numerous and can be divided roughly into three categories: (1) reduced production of hemoglobin or red blood cells; (2) increased red cell destruction; or (3) blood loss (acute or chronic).

What to learn
  • The causes of anemia as outlined above.
  • Symptoms and signs of anemia.
  • Investigations to find the cause of anemia.

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Sickle-cell disease
Sickle-cell disease is a common inherited disease caused by a point mutation in the beta globulin gene, which results in the substitution of valine for glutamate. The resultant hemoglobin variant, HbS, polymerizes at low oxygen saturations, causing the characteristic sickle deformity of the red cells, which 'sludge' in the small vessels and undergo hemolysis.

What to learn
  • Epidemiology and pathophysiology of sickle-cell disease: association with malaria-endemic regions.
  • Classification of sickle-cell disease: heterozygous and homozygous forms.
  • Clinical features of sickle-cell disease.
  • Management of sickle-cell crises.

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Leukemia includes a spectrum of diseases caused by malignant proliferation of hemopoietic precursor cells in the bone marrow. These diseases are not common; the incidence is 5 per 100,000 per year for all types, but they are important because of their responsiveness to treatment.

What to learn
  • Classification of the four main types: acute lymphoblastic, acute myeloblastic, chronic lymphocytic and chronic myeloid; be aware of the subclassification within these main types (French American British (FAB) etc.).
  • Etiological factors: especially genetic mutations such as the Philadelphia chromosome and the translocation.
  • Symptoms and signs of leukemia.
  • Diagnostic tests (blood film, bone marrow biopsy, and cytogenetics).
  • Management of leukemia: chemotherapy -Granulocyte, Monocyte-Colony Stimulating Factor (GM-CSF) and (All-Trans Retinoic Acid (ATRA), and supportive treatment (i.e., blood transfusions).

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The lymphomas are caused by neoplastic proliferation of cells in the lymphoid system. Classification is based on histological appearance of the abnormal cells and is divided into Hodgkin's and non-Hodgkin's lymphoma (NHL).

What to learn
  • Classification of the lymphomas and how the disease is staged and graded.
  • Symptoms, signs and methods of diagnosis.
  • A differential diagnosis of causes of lymph node enlargement.
  • Prognosis and management of lymphoma.

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Myeloma is a disease caused by malignant proliferation of plasma cells in the bone marrow. It is part of a spectrum of diseases characterized by the presence of a serum paraprotein that can be demonstrated as a monoclonal band on electrophoresis. It occurs mainly in people over 50 years of age. The clinical features are caused by bone destruction, bone marrow infiltration and failure, and renal failure due to deposition of the light chain paraprotein.

What to learn
  • Pathophysiology of the disease and mechanisms by which the clinical features are produced.
  • Symptoms, signs, and diagnostic tests: blood film, protein electrophoresis, Bence-Jones proteins in urine, and bone marrow biopsy in particular.
  • Prognosis and management.

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Hemophilia A
Hemophilia A is an X-linked recessive inherited disease characterized by a deficiency of clotting factor VIII. The incidence is 1 in 7500 of the male population per year. Clinical features depend on the level of factor VIII: if it is less than 1% of normal, the patient will experience frequent spontaneous bleeds from early life. Bleeds commonly occur into the large joints (hemarthroses) and lead to crippling deformity if the condition is untreated.

What to learn
  • Understand the clotting pathway and how factor VIII plays a central role; ensure that you are learning the up-to-date version and not the old intrinsic/extrinsic model.
  • Classification of the severity of hemophilia, and clinical features.
  • Management of hemophilia: factor VIII, activated factor VII, 1-deamino-8-D-arginine vasopressin, also known as desmopressin (ddAVP), and potential for gene therapy.
  • Risks of treatment with blood products and the effects of human immunodeficiency virus (HIV) and hepatitis C infection in people with hemophilia.

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