RED BLOOD CELL DEFECTS
Disease: Alpha-thalassaemia diseases (Alpha-THAL)
Symptoms: Mild to severe anemia, fatigue, pale skin, delayed growth (in severe cases)
Treatments: Blood transfusions (in moderate to severe cases), iron chelation therapy, bone marrow transplant (in severe cases)
Disease: Beta-thalassemia and related diseases (Beta-THAL)
Symptoms: Mild to severe anemia, fatigue, pale skin, delayed growth, bone deformities (in severe cases)
Treatments: Blood transfusions, iron chelation therapy, bone marrow transplant (in severe cases)
Disease: Hemoglobinopathy (Other than THAL and SCD)
Symptoms: Varies depending on the specific type, can include mild to moderate anemia, jaundice, gallstones
Treatments: Often no specific treatment needed, may require occasional blood transfusions
Disease: Hereditary elliptocytosis (HE)
Symptoms: Usually mild or no symptoms, sometimes mild anemia, jaundice, gallstones
Treatments: Usually no treatment needed, may require splenectomy in some cases
Disease: Hereditary spherocytosis (HS)
Symptoms: Mild to moderate anemia, jaundice, gallstones, splenomegaly
Treatments: Splenectomy, folic acid supplements, blood transfusions (in severe cases)
Disease: Hereditary stomatocytosis (HSt)
Symptoms: Anemia, jaundice, splenomegaly, red blood cells are abnormally shaped
Treatments: Splenectomy, blood transfusions (in severe cases)
Disease: Primary inherited erythrocytosis / Congenital polycythemia (EC/PFCP)
Symptoms: Headache, dizziness, blurred vision, fatigue, shortness of breath, red or purplish skin color
Treatments: Phlebotomy (blood removal) to reduce red blood cell count, medications to reduce blood clotting risk
Disease: Rare constitutional hemolytic anemia due to an enzyme disorder (Other than PKD)
Symptoms: Varies depending on the specific enzyme deficiency, can include anemia, jaundice, gallstones, splenomegaly
Treatments: Varies depending on the specific enzyme deficiency, may include blood transfusions, splenectomy, medications
Disease: Rare constitutional hemolytic anemia due to pyruvate kinase deficiency (PKD)
Symptoms: Anemia, jaundice, gallstones, splenomegaly
Treatments: Splenectomy, blood transfusions (in severe cases), medications
Disease: Sickle cell disease and related diseases (SCD)
Symptoms: Pain crises, fatigue, shortness of breath, delayed growth, frequent infections, vision problems
Treatments: Medications to reduce pain and prevent complications, blood transfusions, bone marrow transplant
BONE MARROW FAILURE
Disease: Acquired red cell aplasia
Symptoms: Severe anemia, fatigue, weakness, pale skin, shortness of breath
Treatments: Immunosuppressive medications, blood transfusions, bone marrow transplant
Disease: Blackfan-Diamond anemia (BDA)
Symptoms: Severe anemia in infancy, fatigue, weakness, pale skin, shortness of breath, congenital abnormalities
Treatments: Corticosteroids, blood transfusions, bone marrow transplant
Disease: Congenital dyserythropoietic anemia (CDA)
Symptoms: Anemia, jaundice, gallstones, splenomegaly, bone abnormalities
Treatments: Blood transfusions, iron chelation therapy, splenectomy
Disease: Constitutional megaloblastic anemia
Symptoms: Anemia, fatigue, weakness, pale skin, shortness of breath, neurological symptoms
Treatments: Vitamin B12 injections, folic acid supplements
Disease: Dyskeratosis congenita and related disorders (DKC)
Symptoms: Nail dystrophy, skin pigmentation abnormalities, oral leukoplakia, bone marrow failure, increased risk of cancer
Treatments: Supportive care, bone marrow transplant
Disease: Fanconi anemia (FA)
Symptoms: Bone marrow failure, congenital abnormalities, short stature, increased risk of cancer
Treatments: Androgens, growth factors, bone marrow transplant
Disease: GATA2 syndrome
Symptoms: Immunodeficiency, predisposition to infections, myelodysplastic syndrome, acute myeloid leukemia
Treatments: Supportive care, bone marrow transplant
Disease: Paroxysmal nocturnal hemoglobinuria (PNH)
Symptoms: Hemolytic anemia, thrombosis, bone marrow failure
Treatments: Eculizumab (Soliris), ravulizumab (Ultomiris), bone marrow transplant
Disease: Rare acquired aplastic anemia (Other than PNH) (AA)
Symptoms: Severe anemia, fatigue, weakness, pale skin, shortness of breath, increased risk of infections and bleeding
Treatments: Immunosuppressive medications, blood transfusions, bone marrow transplant
Disease: Rare constitutional aplastic anemia (Other than BDA, DKC, FA, SDS) (CAA)
Symptoms: Severe anemia, fatigue, weakness, pale skin, shortness of breath, congenital abnormalities
Treatments: Blood transfusions, bone marrow transplant
Disease: Shwachman-Diamond syndrome (SDS)
Symptoms: Exocrine pancreatic insufficiency, bone marrow failure, skeletal abnormalities, short stature
Treatments: Pancreatic enzyme replacement therapy, antibiotics, growth factors, bone marrow transplant
HEMOCHROMATOSIS AND OTHER IRON DISORDERS
Disease: Aceruloplasminemia (ACP)
Symptoms: Iron accumulation in the brain, liver, and pancreas, neurological symptoms, diabetes, liver disease
Treatments: Iron chelation therapy, medications to manage neurological symptoms
Disease: Congenital atransferrinemia (CAT)
Symptoms: Severe iron deficiency anemia, fatigue, weakness, pale skin, shortness of breath, heart failure
Treatments: Regular blood transfusions, iron chelation therapy
Disease: Constitutional sideroblastic anemia (excluding Severe congenital hypochromic anemia with ringed sideroblasts)
Symptoms: Anemia, fatigue, weakness, pale skin, shortness of breath, iron overload
Treatments: Pyridoxine (vitamin B6) supplements, blood transfusions, iron chelation therapy
Disease: Hereditary Hyperferritinemia with or without cataract (OMIM 600886)
Symptoms: Elevated ferritin levels, may have cataracts
Treatments: Usually no treatment needed, may require phlebotomy if iron overload develops
Disease: HFE related hereditary hemochromatosis (Symptomatic form of hemochromatosis type 1 – OMIM 235201)
Symptoms: Iron overload, fatigue, joint pain, liver disease, diabetes, heart problems
Treatments: Phlebotomy to remove excess iron, iron chelation therapy
Disease: Iron-refractory iron deficiency anemia syndrome (IRIDA)
Symptoms: Iron deficiency anemia that does not respond to oral iron supplements, fatigue, weakness, pale skin, shortness of breath
Treatments: Intravenous iron therapy
Disease: Low iron availability for erythropoiesisIron Refractory Iron deficiency Anemia (IRIDA), Aceruloplasminemia (ACP)
Symptoms: Iron deficiency anemia, fatigue, weakness, pale skin, shortness of breath
Treatments: Intravenous iron therapy, iron chelation therapy (in ACP)
Disease: Microcytic anemia with liver iron overload
Symptoms: Anemia, iron overload, liver disease
Treatments: Iron chelation therapy, blood transfusions (if needed)
Disease: Neuroferritinopathy
Symptoms: Movement disorders, cognitive decline, psychiatric symptoms
Treatments: No specific treatment, supportive care
Disease: non-HFE related hereditary hemochromatosis (HH types 2A, 2B, 3 and 4A,4B), TFH1-Related Hemochromatosis (type V), Hereditary Hyperferritinemia Cataract Syndrome
Symptoms: Iron overload, fatigue, joint pain, liver disease, diabetes, heart problems
Treatments: Phlebotomy to remove excess iron, iron chelation therapy
Disease: Porphyrias
Symptoms: Varies depending on the specific type, can include abdominal pain, neurological symptoms, skin sensitivity to sunlight
Treatments: Varies depending on the specific type, may include avoidance of triggers, medications, intravenous heme
Disease: Rare acquired deficiency anemia (Plummer-Vinson syndrome) (PVS)
Symptoms: Iron deficiency anemia, difficulty swallowing, esophageal webs
Treatments: Iron supplements, dilation of the esophagus
Disease: Rare defects in iron acquisition and transport: Atransferrinemia, Microcytic anemia with iron loading (DMT1), Sideroblastic anemia (STEAP3)
Symptoms: Iron deficiency anemia, iron overload
Treatments: Varies depending on the specific defect, may include blood transfusions, iron chelation therapy
Disease: Rare hereditary hemochromatosis (Other than Type 1)
Symptoms: Iron overload, fatigue, joint pain, liver disease, diabetes, heart problems
Treatments: Phlebotomy to remove excess iron, iron chelation therapy
BLEEDING – COAGULATION DISORDERS
Disease: Atypical hemolytic-uremic syndrome
Symptoms: Hemolytic anemia, thrombocytopenia, kidney failure
Treatments: Plasma exchange, eculizumab (Soliris), ravulizumab (Ultomiris)
Disease: Hemophilia A (HA)
Symptoms: Prolonged bleeding, easy bruising, joint pain and swelling
Treatments: Replacing clotting factor VIII through intravenous infusions
Disease: Hemophilia B (HB)
Symptoms: Prolonged bleeding, easy bruising, joint pain and swelling
Treatments: Replacing clotting factor IX through intravenous infusions
Disease: Rare hemorrhagic disease due to constitutional coagulation factors defects (Other than Hemophilia and Von Willebrand disease)
Symptoms: Varies depending on the specific factor deficiency, can include prolonged bleeding, easy bruising, joint pain and swelling
Treatments: Replacing the deficient clotting factor through intravenous infusions
Disease: Rare hemorrhagic disorder due to a constitutional platelet anomaly
Symptoms: Easy bruising, prolonged bleeding, petechiae (small red or purple spots on the skin)
Treatments: Varies depending on the specific anomaly, may include platelet transfusions, medications
Disease: Rare hemorrhagic disorder due to an acquired platelet anomaly
Symptoms: Easy bruising, prolonged bleeding, petechiae
Treatments: Varies depending on the cause, may include treating the underlying condition, platelet transfusions, medications
Disease: Rare thrombotic disorder due to a coagulation factors defect
Symptoms: Increased risk of blood clots, deep vein thrombosis, pulmonary embolism
Treatments: Anticoagulant medications
Disease: Rare thrombotic disorder due to quantitative platelet anomaly (High)
Symptoms: Increased risk of blood clots, deep vein thrombosis, pulmonary embolism
Treatments: Medications to reduce platelet count, anticoagulant medications
Disease: Rare thrombotic disorder due to quantitative platelet anomaly (Low)
Symptoms: Easy bruising, prolonged bleeding, petechiae
Treatments: Platelet transfusions, medications
Disease: Typical hemolytic-uremic syndrome
Symptoms: Hemolytic anemia, thrombocytopenia, kidney failure
Treatments: Supportive care, plasma exchange, dialysis (if needed)
Disease: Von Willebrand disease (VWD)
Symptoms: Frequent nosebleeds, easy bruising, prolonged bleeding after injury or surgery, heavy menstrual bleeding
Treatments: Desmopressin (DDAVP), von Willebrand factor concentrates
LYMPHOID MALIGNANCIES
Disease: Acute lymphoblastic leukemia
Symptoms: Fatigue, weakness, fever, frequent infections, easy bruising or bleeding, bone pain
Treatments: Chemotherapy, targeted therapy, immunotherapy, stem cell transplant
Disease: AL Amyloidosis
Symptoms: Fatigue, weakness, shortness of breath, swelling in the legs and ankles, kidney problems, heart problems
Treatments: Chemotherapy, stem cell transplant, supportive care
Disease: Castleman Disease
Symptoms: Fever, fatigue, night sweats, weight loss, enlarged lymph nodes, organ dysfunction
Treatments: Corticosteroids, chemotherapy, immunotherapy, surgery
Disease: Diffuse large B-cell lymphoma, NOS
Symptoms: Rapidly growing mass, often in lymph nodes, fever, night sweats, weight loss
Treatments: Chemotherapy, immunotherapy, radiation therapy, stem cell transplant
Disease: Diffuse large B-cell lymphoma, Other than NOS
Symptoms: Rapidly growing mass, often in lymph nodes, fever, night sweats, weight loss
Treatments: Chemotherapy, immunotherapy, radiation therapy, stem cell transplant
Disease: Follicular lymphoma
Symptoms: Slowly growing lymphoma, often in lymph nodes, painless swelling
Treatments: Watchful waiting, chemotherapy, immunotherapy, radiation therapy
Disease: Hairy cell leukemia
Symptoms: Fatigue, weakness, easy bruising or bleeding, enlarged spleen, recurrent infections
Treatments: Chemotherapy, targeted therapy, splenectomy
Disease: Histiocytic Disorders
Symptoms: Varies depending on the specific disorder, can include fever, skin rashes, bone lesions, organ dysfunction
Treatments: Varies depending on the specific disorder, may include chemotherapy, immunotherapy, targeted therapy
Disease: Hodgkin lymphoma
Symptoms: Painless swelling of lymph nodes, fever, night sweats, weight loss, fatigue
Treatments: Chemotherapy, radiation therapy, stem cell transplant
Disease: Indolent B-cell lymphomas / Non follicular
Symptoms: Slowly growing lymphoma, often in lymph nodes, painless swelling
Treatments: Watchful waiting, chemotherapy, immunotherapy, radiation therapy
Disease: Mantle cell lymphoma
Symptoms: Rapidly growing lymphoma, often in lymph nodes, fever, night sweats, weight loss
Treatments: Chemotherapy, immunotherapy, radiation therapy, stem cell transplant
Disease: Mature T-cell neoplasms non primary cutaneous Extra nodal
Symptoms: Varies depending on the specific type, can include skin lesions, enlarged lymph nodes, organ dysfunction
Treatments: Chemotherapy, immunotherapy, radiation therapy, stem cell transplant
Disease: Mature T-cell neoplasms non primary cutaneous leukemic
Symptoms: Varies depending on the specific type, can include skin lesions, enlarged lymph nodes, organ dysfunction
Treatments: Chemotherapy, immunotherapy, radiation therapy, stem cell transplant
Disease: Mature T-cell neoplasms non primary cutaneous Nodal
Symptoms: Varies depending on the specific type, can include skin lesions, enlarged lymph nodes, organ dysfunction
Treatments: Chemotherapy, immunotherapy, radiation therapy, stem cell transplant
Disease: Other aggressive B-cell neoplasms
Symptoms: Rapidly growing lymphoma, often in lymph nodes, fever, night sweats, weight loss
Treatments: Chemotherapy, immunotherapy, radiation therapy, stem cell transplant
Disease: Plasma cell neoplasm
Symptoms: Bone pain, fatigue, weakness, recurrent infections, kidney problems
Treatments: Chemotherapy, stem cell transplant, supportive care
Disease: Posttransplant lymphoproliferative disorders (PTLD)
Symptoms: Enlarged lymph nodes, fever, fatigue, organ dysfunction
Treatments: Reduction of immunosuppression, chemotherapy, immunotherapy, radiation therapy
Disease: Primary cutaneous lymphoma
Symptoms: Skin lesions, itching, redness, scaling
Treatments: Radiation therapy, topical medications, chemotherapy, immunotherapy
MYELOID MALIGNANCIES
Disease: Acute myeloid leukemia (AML)
Symptoms: Fatigue, weakness, fever, frequent infections, easy bruising or bleeding, bone pain
Treatments: Chemotherapy, targeted therapy, immunotherapy, stem cell transplant
Disease: Acute promyelocytic leukemia
Symptoms: Fatigue, weakness, fever, frequent infections, easy bruising or bleeding, bone pain
Treatments: Chemotherapy, targeted therapy, stem cell transplant
Disease: Bloom syndrome
Symptoms: Short stature, skin rash, increased risk of cancer
Treatments: No specific treatment, supportive care, cancer screening
Disease: Chronic myeloid leukemia
Symptoms: Fatigue, weakness, enlarged spleen, weight loss, night sweats
Treatments: Targeted therapy (tyrosine kinase inhibitors), stem cell transplant
Disease: Hypereosinophilic syndrome
Symptoms: High levels of eosinophils, organ damage (heart, lungs, skin, nervous system)
Treatments: Corticosteroids, chemotherapy, targeted therapy
Disease: Mastocytosis
Symptoms: Skin lesions, itching, flushing, abdominal pain, diarrhea, bone pain
Treatments: Antihistamines, corticosteroids, chemotherapy, targeted therapy
Disease: Myelodysplastic syndrome
Symptoms: Anemia, fatigue, weakness, easy bruising or bleeding, recurrent infections
Treatments: Supportive care, blood transfusions, growth factors, chemotherapy, stem cell transplant
Disease: Myelodysplastic/myeloproliferative disease
Symptoms: Features of both myelodysplastic syndrome and myeloproliferative neoplasms
Treatments: Varies depending on the specific type, may include supportive care, blood transfusions, growth factors, chemotherapy, stem cell transplant
Disease: Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR0
Symptoms: High levels of eosinophils, organ damage (heart, lungs, skin, nervous system)
Treatments: Targeted therapy (tyrosine kinase inhibitors)
Disease: Myeloid neoplasms with germline predisposition or inherited
Symptoms: Increased risk of developing myeloid malignancies
Treatments: Regular monitoring, early intervention if malignancy develops
Disease: Myeloproliferative neoplasm (Other than Chronic myeloid leukemia and Primary myelofibrosis)
Symptoms: Overproduction of blood cells, enlarged spleen, fatigue, weakness, itching, night sweats
Treatments: Varies depending on the specific type, may include phlebotomy, medications, chemotherapy
Disease: Secondary polycythemia
Symptoms: Increased red blood cell count due to an underlying condition (e.g., lung disease, heart disease, high altitude)
Treatments: Treat the underlying condition
