Blood Diseases

Anemia

Condition characterized by decreased red blood cell count or hemoglobin leading to fatigue pallor and shortness of breath caused by various etiologies

Iron deficiency anemia

Most common anemia caused by low iron resulting in microcytic hypochromic anemia symptoms include fatigue pallor and pica

Sickle cell anemia

Autosomal recessive disorder caused by hemoglobin S mutation leading to vaso-occlusive crises hemolytic anemia and pain episodes

Thalassemia

Inherited hemoglobinopathy causing reduced synthesis of alpha or beta globin chains leading to microcytic anemia hepatosplenomegaly and bone deformities

Hemolytic anemia

Group of disorders causing premature red blood cell destruction symptoms include jaundice dark urine and anemia

Aplastic anemia

Bone marrow failure resulting in pancytopenia symptoms include fatigue infections and bleeding

Vitamin B12 deficiency anemia

Macrocytic anemia caused by vitamin B12 deficiency leading to neurological symptoms paresthesia and glossitis

Folate deficiency anemia

Macrocytic anemia due to folate deficiency causing fatigue pallor and glossitis

Polycythemia vera

Myeloproliferative disorder characterized by increased red blood cell mass causing headaches dizziness and thrombosis risk

Leukemia

Malignant proliferation of white blood cells causing fatigue fever infections and bleeding

Acute lymphoblastic leukemia (ALL)

Most common childhood leukemia characterized by proliferation of lymphoblasts symptoms include fatigue fever and bone pain

Acute myeloid leukemia (AML)

Malignant proliferation of myeloid precursors leading to anemia infections and bleeding

Chronic lymphocytic leukemia (CLL)

Common adult leukemia marked by accumulation of mature but dysfunctional lymphocytes causing lymphadenopathy and infections

Chronic myeloid leukemia (CML)

Myeloproliferative neoplasm characterized by Philadelphia chromosome and increased granulocytes causing fatigue and splenomegaly

Multiple myeloma

Malignancy of plasma cells causing bone pain anemia renal failure and hypercalcemia

Hemophilia A

X-linked recessive disorder caused by factor VIII deficiency leading to bleeding symptoms such as hemarthrosis and easy bruising

Hemophilia B

X-linked recessive disorder caused by factor IX deficiency with clinical features similar to hemophilia A

Von Willebrand disease

Most common inherited bleeding disorder caused by deficiency or dysfunction of von Willebrand factor leading to mucosal bleeding and prolonged bleeding time

Disseminated intravascular coagulation (DIC)

Pathological activation of coagulation causing widespread thrombosis and bleeding symptoms include petechiae bleeding and organ failure

Deep vein thrombosis (DVT)

Formation of blood clots in deep veins commonly of the legs causing pain swelling and risk of pulmonary embolism

Pulmonary embolism (PE)

Obstruction of pulmonary artery by embolus causing sudden dyspnea chest pain and hypoxia

Hemolytic disease of the newborn

Condition where maternal antibodies attack fetal red blood cells causing hemolysis anemia and jaundice

Spherocytosis

Inherited hemolytic anemia characterized by spherical red blood cells causing anemia jaundice and splenomegaly

G6PD deficiency

X-linked recessive disorder causing red blood cell susceptibility to oxidative stress leading to hemolytic anemia triggered by certain drugs or infections

Sickle cell crisis

Acute exacerbation of sickle cell anemia causing vaso-occlusion pain infarction and anemia

Idiopathic thrombocytopenic purpura (ITP)

Autoimmune destruction of platelets causing easy bruising petechiae and bleeding

Thrombotic thrombocytopenic purpura (TTP)

Microangiopathic hemolytic anemia with thrombocytopenia fever neurological symptoms and renal failure caused by ADAMTS13 deficiency

Hemolytic uremic syndrome (HUS)

Acute renal failure thrombocytopenia and microangiopathic hemolytic anemia often following E coli infection in children

Polycythemia

Increased red blood cell mass causing hyperviscosity symptoms like headache dizziness and thrombosis risk

Essential thrombocythemia

Myeloproliferative disorder with elevated platelet count causing thrombosis or bleeding complications

Hereditary spherocytosis

Autosomal dominant hemolytic anemia with spherocytes on peripheral smear causing anemia jaundice and splenomegaly

Paroxysmal nocturnal hemoglobinuria (PNH)

Acquired stem cell disorder causing complement-mediated hemolysis with symptoms of dark urine and thrombosis

Cold agglutinin disease

Autoimmune hemolytic anemia with antibodies active at cold temperatures causing hemolysis and acrocyanosis

Warm autoimmune hemolytic anemia

Autoimmune destruction of red blood cells active at body temperature causing anemia and jaundice

Hemoglobin C disease

Hemoglobinopathy causing mild hemolytic anemia with hemoglobin C crystals in red cells

Lead poisoning anemia

Microcytic anemia caused by lead toxicity symptoms include abdominal pain neuropathy and basophilic stippling

Megaloblastic anemia

Macrocytic anemia due to impaired DNA synthesis often caused by B12 or folate deficiency causing glossitis and neurologic symptoms

Myelodysplastic syndrome

Clonal bone marrow disorder causing cytopenias and risk of progression to AML

Paroxysmal cold hemoglobinuria

Autoimmune hemolytic anemia with biphasic hemolysin causing hemoglobinuria after cold exposure

Thrombocytopenia

Low platelet count causing bleeding and bruising risk

Hemochromatosis

Excessive iron accumulation causing liver cirrhosis diabetes and skin pigmentation

Hypersplenism

Enlarged spleen causing sequestration and destruction of blood cells leading to cytopenias

Myelofibrosis

Bone marrow fibrosis causing anemia splenomegaly and leukoerythroblastic blood picture

Polycythemia vera

Myeloproliferative neoplasm causing increased red blood cell mass and thrombosis risk

Essential thrombocythemia

Increased platelet count causing thrombotic and bleeding complications

Hemolytic disease of the newborn

Maternal antibody mediated hemolysis of fetal red cells causing anemia and jaundice

Bernard-Soulier syndrome

Platelet disorder causing thrombocytopenia defective platelet adhesion and mucocutaneous bleeding

Glanzmann thrombasthenia

Platelet aggregation disorder causing mucocutaneous bleeding and normal platelet count

Factor V Leiden thrombophilia

Genetic mutation causing resistance to activated protein C increasing risk of thrombosis

Protein C deficiency

Inherited thrombophilia causing increased risk of venous thrombosis

Protein S deficiency

Inherited thrombophilia causing recurrent thrombosis

Antithrombin III deficiency

Inherited deficiency increasing risk of thrombosis

Hemophilia C

Factor XI deficiency causing bleeding tendencies less severe than hemophilia A and B

Cryoglobulinemia

Immune complex disorder causing purpura arthralgia and glomerulonephritis

Disseminated intravascular coagulation

Widespread activation of clotting cascade leading to thrombosis and bleeding complications

Autoimmune hemolytic anemia

Destruction of red blood cells by autoantibodies causing anemia and jaundice