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Blood Disorders
A reference to blood disorders, including anemias, bleeding conditions and blood cancers, with information on symptoms, genetic factors, diagnosis, treatments and prognosis.
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A reference to blood disorders, including anemias, bleeding conditions and blood cancers, with information on symptoms, genetic factors, diagnosis, treatments and prognosis.
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Columns
| # | TextID | TextDisorder Name | TextCategory | TextPrevalence | TextInheritance Pattern | TextAffected Gene(s) | LocationChromosome Location | TextKey Symptoms | TextTypical Age of Onset | TextDiagnosis Methods | TextAvailable Treatments | TextOrphan Drug Designation | TextICD-10 Code | NumberOMIM Number | TextAffected Cell Type/System | TextDisease Severity | TextLife Expectancy Impact |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 01 | 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 |
| 02 | 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 |
| 03 | 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 |
| 04 | 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 |
| 05 | 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) |
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