Blood Disorders Dataset – Hematological Diseases & Conditions Database
Blood Disorders Dataset
The Blood Disorders Dataset is a structured medical database containing a comprehensive list of conditions affecting the blood and its components, including red blood cells, white blood cells, platelets, and plasma.
Blood disorders can impact oxygen transport, immune function, and clotting processes, ranging from common conditions like anemia to serious diseases such as leukemia and clotting disorders. This dataset provides organised information to support medical research, healthcare analytics, and application development.
Each record includes detailed clinical information such as disease descriptions, affected blood components, common symptoms, severity levels, and treatment approaches.
The dataset has been cleaned and structured for easy integration into spreadsheets, databases, and analytical tools.
It is ideal for hematology research, healthcare developers, educators, and data scientists working with blood-related health data.
Dataset Contents
The dataset includes fields such as:
- Disease / Condition Name
- Description
- Affected Component (Red Blood Cells, White Blood Cells, Platelets, Plasma)
- Common Symptoms
- Severity Level
- Disease Category
- Risk Factors
- Treatment / Management
Example Conditions Included
- Anemia
- Leukemia
- Hemophilia
- Sickle Cell Disease
- Thrombocytopenia
- Polycythemia
- Lymphoma
- Deep Vein Thrombosis (DVT)
- Iron Deficiency Anemia
- Aplastic Anemia
...and many more blood-related conditions.
Data Preview
| ID | Disorder Name | Category | Prevalence | Inheritance Pattern | Affected Gene(s) | Chromosome Location | Key Symptoms | Typical Age of Onset | Diagnosis Methods | Available Treatments | Orphan Drug Designation | ICD-10 Code | OMIM Number | Affected Cell Type/System | Disease Severity | Life Expectancy Impact | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 1 | Iron Deficiency Anemia | Anemia/Nutritional | ~5% (US adults); ~30% globally | Acquired | N/A | N/A | Fatigue, pallor, shortness of breath, koilonychia, pica, restless legs, glossitis | Any age (highest in women of reproductive age, infants) | CBC (microcytic hypochromic), serum ferritin (low), TIBC (high), transferrin saturation, peripheral smear | Oral iron (ferrous sulfate), IV iron (ferric carboxymaltose, iron sucrose), treat underlying cause | No | D50.9 | N/A | Erythrocytes | Mild-Moderate | Normal with treatment |
| 2 | 2 | Vitamin B12 Deficiency Anemia (Pernicious Anemia) | Anemia/Megaloblastic | ~1/10,000 (autoimmune form) | Mostly acquired autoimmune; rare hereditary (juvenile) | GIF, CBLIF (juvenile forms) | 11q12.1 | Macrocytic anemia, glossitis, paresthesias, ataxia, dementia, subacute combined degeneration | 60+ years (autoimmune); childhood (juvenile) | CBC (macrocytic), serum B12 (low), MMA, homocysteine, anti-intrinsic factor antibodies, Schilling test | IM/SC cyanocobalamin or hydroxocobalamin, high-dose oral B12, lifelong replacement | No | D51.0 | 261000 | Erythrocytes, Neurological | Moderate | Normal with treatment |
| 3 | 3 | Folate Deficiency Anemia | Anemia/Megaloblastic | Common (varies by region/diet) | Acquired | N/A | N/A | Macrocytic anemia, glossitis, fatigue, irritability, diarrhea, weight loss | Any age | CBC (macrocytic), serum/RBC folate, homocysteine (elevated), MMA (normal) | Oral folic acid (1-5 mg/day), dietary modification, treat underlying cause | No | D52.9 | N/A | Erythrocytes | Mild-Moderate | Normal with treatment |
| 4 | 4 | Aplastic Anemia (Acquired) | Anemia/Bone Marrow Failure | 2-6/1,000,000/year | Acquired (idiopathic, drug-induced, viral, autoimmune) | N/A | N/A | Pancytopenia, fatigue, bleeding, recurrent infections, pallor, petechiae | Bimodal: 15-25 and >60 years | CBC, reticulocyte count, bone marrow biopsy (hypocellular), exclusion of other causes | Immunosuppression (ATG + cyclosporine), eltrombopag, HSCT, supportive transfusions | Yes | D61.9 | 609135 | Pancytopenia/Bone marrow | Severe | Reduced without treatment; good with HSCT |
| 5 | 5 | Hereditary Aplastic Anemia (Fanconi Anemia) | Anemia/Bone Marrow Failure | 1/130,000-1/160,000 | Autosomal Recessive (most); X-linked (FANCB) | FANCA, FANCC, FANCG, BRCA2, FANCD2 (>22 genes) | 16q24.3, 9q22.32, 9p13.3, 13q13.1 | Bone marrow failure, congenital malformations (radial ray, kidney), short stature, cancer predisposition | 5-10 years (marrow failure); birth (anomalies) | Chromosome breakage test (DEB/MMC), genetic testing, CBC, bone marrow biopsy | Androgens (oxymetholone), HSCT, gene therapy (investigational), cancer surveillance | Yes | D61.09 | 227650 | Pancytopenia/Bone marrow | Severe | Reduced (median ~30 years) |
| 6 | 6 | Sickle Cell Disease (HbSS) | Anemia/Hemoglobinopathy | 1/365 African Americans | Autosomal Recessive | HBB | 11p15.4 | Vaso-occlusive crises, chronic hemolytic anemia, acute chest syndrome, stroke, splenic sequestration, dactylitis | 6 months | Newborn screening, hemoglobin electrophoresis, HPLC, genetic testing, CBC | Hydroxyurea, L-glutamine, crizanlizumab, voxelotor, HSCT, gene therapy (Casgevy/exa-cel, Lyfgenia) | Yes | D57.1 | 603903 | Erythrocytes/Multi-organ | Severe | Reduced (median ~45 years US) |
| 7 | 7 | Sickle Cell Trait (HbAS) | Anemia/Hemoglobinopathy | ~8% African Americans | Autosomal Recessive (heterozygous carrier state) | HBB | 11p15.4 | Usually asymptomatic; rare exertional rhabdomyolysis, splenic infarcts at altitude, hematuria | Asymptomatic | Hemoglobin electrophoresis, sickle solubility test | Genetic counseling, hydration, avoid extreme exertion at altitude | No | D57.3 | 603903 | Erythrocytes | Mild | Normal |
| 8 | 8 | Beta Thalassemia Major (Cooley's Anemia) | Anemia/Hemoglobinopathy | Common in Mediterranean, Middle East, SE Asia | Autosomal Recessive | HBB | 11p15.4 | Severe transfusion-dependent anemia, hepatosplenomegaly, skeletal deformities, growth retardation, iron overload | 6 months - 2 years | Hemoglobin electrophoresis (no HbA, high HbF), CBC, genetic testing | Lifelong transfusions, iron chelation (deferasirox, deferoxamine, deferiprone), HSCT, betibeglogene autotemcel (gene therapy), luspatercept | Yes | D56.1 | 613985 | Erythrocytes | Severe | Reduced without management |
| 9 | 9 | Beta Thalassemia Intermedia | Anemia/Hemoglobinopathy | Variable | Autosomal Recessive | HBB | 11p15.4 | Moderate anemia, splenomegaly, bone changes, occasional transfusion need, extramedullary hematopoiesis | Childhood-adolescence | Hemoglobin electrophoresis, genetic testing, CBC | Selective transfusions, hydroxyurea, splenectomy, luspatercept, iron chelation as needed | Yes | D56.1 | 613985 | Erythrocytes | Moderate | Near-normal with management |
| 10 | 10 | Beta Thalassemia Minor (Trait) | Anemia/Hemoglobinopathy | Common in endemic regions | Autosomal Recessive (heterozygous) | HBB | 11p15.4 | Mild microcytic anemia, often asymptomatic, mistaken for iron deficiency | Asymptomatic/incidental | Hemoglobin electrophoresis (elevated HbA2), CBC | Genetic counseling; usually no treatment needed | No | D56.3 | 613985 | Erythrocytes | Mild | Normal |
| 11 | 11 | Alpha Thalassemia (HbH Disease) | Anemia/Hemoglobinopathy | Common in SE Asia, Mediterranean | Autosomal Recessive (3 alpha gene deletions) | HBA1, HBA2 | 16p13.3 | Moderate hemolytic anemia, splenomegaly, jaundice, gallstones, occasional transfusions | Infancy-childhood | Hemoglobin electrophoresis (HbH inclusion), genetic testing, CBC | Folate, transfusions as needed, splenectomy, avoid oxidative drugs | No | D56.0 | 604131 | Erythrocytes | Moderate | Near-normal |
| 12 | 12 | Alpha Thalassemia Major (Hb Bart's Hydrops Fetalis) | Anemia/Hemoglobinopathy | Rare; common in SE Asia regions | Autosomal Recessive (4 alpha gene deletions) | HBA1, HBA2 | 16p13.3 | Severe fetal anemia, hydrops fetalis, hepatosplenomegaly, usually fatal in utero | Prenatal | Prenatal hemoglobin electrophoresis, ultrasound, genetic testing | Intrauterine transfusions, postnatal lifelong transfusions, HSCT | Yes | D56.0 | 604131 | Erythrocytes | Severe | Usually fatal in utero or neonatal |
| 13 | 13 | Hereditary Spherocytosis | Anemia/Hemolytic Membrane | 1/2,000-1/5,000 (Northern European descent) | AD (75%); AR (25%) | ANK1, SPTB, SPTA1, SLC4A1, EPB42 | 8p11.21, 14q23.3, 1q23.1, 17q21.31, 15q15.2 | Hemolytic anemia, jaundice, splenomegaly, gallstones, aplastic crises with parvovirus B19 | Variable (infancy to adulthood) | Peripheral smear (spherocytes), osmotic fragility, EMA binding test, genetic testing | Folate, splenectomy (severe cases), transfusions, cholecystectomy, vaccination pre-splenectomy | No | D58.0 | 182900 | Erythrocyte membrane | Mild-Moderate | Normal with treatment |
| 14 | 14 | Hereditary Elliptocytosis | Anemia/Hemolytic Membrane | 1/2,000-1/4,000 | Autosomal Dominant | SPTA1, SPTB, EPB41 | 1q23.1, 14q23.3, 1p35.3 | Mild hemolytic anemia (most asymptomatic), jaundice, splenomegaly | Variable | Peripheral smear (>25% elliptocytes), genetic testing | Folate, splenectomy (rare/severe), supportive care | No | D58.1 | 611804 | Erythrocyte membrane | Mild | Normal |
| 15 | 15 | Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency | Anemia/Hemolytic Enzymopathy | ~400 million worldwide | X-linked Recessive | G6PD | Xq28 | Episodic hemolytic anemia triggered by oxidative stress (fava beans, drugs, infections), neonatal jaundice | Variable (often after triggering exposure) | G6PD enzyme assay, peripheral smear (bite cells, Heinz bodies), genetic testing | Avoid triggers (sulfonamides, antimalarials, fava beans), transfusions in severe hemolysis, supportive care | No | D55.0 | 305900 | Erythrocyte enzyme | Mild-Severe (variable) | Normal with avoidance |
| 16 | 16 | Pyruvate Kinase Deficiency | Anemia/Hemolytic Enzymopathy | 1/20,000 | Autosomal Recessive | PKLR | 1q22 | Chronic hemolytic anemia, jaundice, gallstones, splenomegaly, iron overload | Infancy | PK enzyme assay, genetic testing, CBC, peripheral smear | Mitapivat (Pyrukynd), transfusions, splenectomy, iron chelation, folate, HSCT (severe) | Yes | D55.2 | 266200 | Erythrocyte enzyme | Moderate-Severe | Reduced without treatment |
| 17 | 17 | Diamond-Blackfan Anemia | Anemia/Bone Marrow Failure | 5-7/1,000,000 | AD (most); AR (rare) | RPS19, RPL5, RPL11, RPS26, GATA1 (>20 ribosomal genes) | 19q13.2, 1p22.1, 1p36.11 | Severe macrocytic anemia, congenital anomalies (thumb, craniofacial, cardiac), short stature, cancer risk | First year of life | CBC (macrocytic anemia), elevated eADA, fetal hemoglobin, bone marrow (reduced erythroid precursors), genetic testing | Corticosteroids, chronic transfusions + chelation, HSCT, luspatercept (investigational) | Yes | D61.01 | 105650 | Erythrocyte precursors | Moderate-Severe | Variable |
| 18 | 18 | Sideroblastic Anemia (Congenital) | Anemia/Hemoglobin Synthesis | Rare | X-linked (XLSA); AR; mitochondrial | ALAS2, SLC25A38, GLRX5, ABCB7 | Xp11.21, 3p22.1, 5q14.1, Xq13.3 | Microcytic anemia, iron overload, ringed sideroblasts in marrow, fatigue | Childhood to adulthood | Bone marrow biopsy (ringed sideroblasts), genetic testing, iron studies | Pyridoxine (B6) for XLSA, transfusions, iron chelation, HSCT (severe) | No | D64.0 | 300751 | Erythroid precursors/Iron metabolism | Moderate | Reduced if untreated |
| 19 | 19 | Anemia of Chronic Disease (Inflammation) | Anemia/Acquired | Common (esp. elderly, chronic illness) | Acquired | N/A | N/A | Mild-moderate normocytic anemia, fatigue, symptoms of underlying disease | Any age (more common with chronic illness) | CBC (normocytic/microcytic), low TIBC, normal/high ferritin, elevated hepcidin, ESR/CRP | Treat underlying disease, ESAs (epoetin, darbepoetin), IV iron if functional iron deficiency | No | D63.8 | N/A | Erythrocytes | Mild-Moderate | Depends on underlying disease |
| 20 | 20 | Autoimmune Hemolytic Anemia (Warm) | Anemia/Hemolytic Autoimmune | 1-3/100,000/year | Acquired autoimmune | N/A | N/A | Acute or insidious anemia, jaundice, splenomegaly, dark urine, fatigue | Adults (peak 50-70 years) | Direct antiglobulin test (DAT/Coombs) positive (IgG), reticulocytosis, LDH, indirect bilirubin | Corticosteroids (prednisone), rituximab, splenectomy, IVIG, immunosuppressants, transfusions | No | D59.10 | N/A | Erythrocytes/Immune | Moderate-Severe | Variable; good with treatment |
| 21 | 21 | Cold Agglutinin Disease | Anemia/Hemolytic Autoimmune | 1/1,000,000/year | Acquired (primary or secondary) | N/A | N/A | Cold-induced hemolysis, acrocyanosis, Raynaud-like symptoms, fatigue | Older adults (>60 years) | DAT positive (C3d), cold agglutinin titer, peripheral smear, monoclonal IgM | Sutimlimab (C1s inhibitor; FDA 2022), rituximab, avoid cold, transfusions (warmed) | Yes | D59.12 | N/A | Erythrocytes/Complement | Moderate | Variable |
| 22 | 22 | Paroxysmal Nocturnal Hemoglobinuria (PNH) | Anemia/Hemolytic Acquired | 1/100,000-1/500,000 | Acquired somatic mutation | PIGA (somatic) | Xp22.2 | Hemolytic anemia, dark/red urine (morning), thrombosis, fatigue, abdominal pain, smooth muscle dystonia | Young adulthood (~30 years) | Flow cytometry (loss of CD55/CD59 GPI-anchored proteins), LDH, hemosiderinuria | Eculizumab, ravulizumab, pegcetacoplan (C3 inhibitor), iptacopan, danicopan, HSCT | Yes | D59.5 | 300818 | Erythrocytes/Complement | Moderate-Severe | Improved with complement inhibitors |
| 23 | 23 | Microangiopathic Hemolytic Anemia (MAHA) | Anemia/Hemolytic | Variable (depends on cause) | Acquired | N/A | N/A | Schistocytes on smear, thrombocytopenia, organ dysfunction (renal, neurological) | Variable | Peripheral smear (schistocytes), CBC, LDH, haptoglobin, DAT (negative) | Treat underlying cause (TTP, HUS, DIC, HELLP), plasma exchange, transfusions | No | D59.4 | N/A | Erythrocytes/Microvasculature | Severe | Depends on cause |
| 24 | 24 | Pure Red Cell Aplasia | Anemia/Bone Marrow Failure | Rare | Acquired (idiopathic, thymoma, parvovirus, autoimmune); rare congenital (DBA) | N/A | N/A | Severe normocytic anemia, reticulocytopenia, normal WBC/platelets | Adults (acquired); infancy (congenital) | CBC, reticulocyte count, bone marrow (absent erythroid precursors), parvovirus PCR, CT chest (thymoma) | Treat underlying cause, immunosuppression (cyclosporine, corticosteroids), thymectomy, IVIG (parvovirus) | No | D60.9 | N/A | Erythrocyte precursors | Severe | Variable |
| 25 | 25 | Congenital Dyserythropoietic Anemia (CDA) | Anemia/Bone Marrow Failure | Rare (<1/100,000) | AR (Types I, II); AD (Type III) | CDAN1, SEC23B, KIF23 | 15q15.2, 20p11.23, 15q23 | Chronic anemia, jaundice, splenomegaly, iron overload, dyserythropoiesis | Infancy to childhood | Bone marrow (multinucleated erythroblasts), genetic testing, CBC | Transfusions, iron chelation, splenectomy, HSCT (severe), interferon-alpha (Type I) | No | D64.4 | 224120 | Erythroid precursors | Moderate | Reduced if untreated |
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