Health Excel

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.

File Size 41.0 KB
Records 110
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17 columns 25 rows shown
  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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