Cytoband (human 10q22.1 HK1) & (mouse 10qB4 Hk1).
Here I present: “Hemolytic Anemia“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (HK1) icd10=D58
INTRODUCTION.
Here’s a structured summary for Hemolytic Anemia (ICD-10: D58):
ICD-10 Code: D58 — Hereditary hemolytic anemias (includes hemolytic anemia not elsewhere classified).
Subcodes (examples):
D58.0 — Hereditary spherocytosis.
D58.1 — Other hereditary hemolytic anemias.
D58.9 — Hemolytic anemia, unspecified.
Definition
Hemolytic anemia is a condition in which red blood cells (RBCs) are destroyed faster than the bone marrow can produce them, leading to anemia. Hemolysis can be intrinsic (RBC defect) or extrinsic (external factors).
Etiology
1. Intrinsic (hereditary) causes:
Membrane defects: Hereditary spherocytosis, elliptocytosis
Enzyme deficiencies: G6PD deficiency, pyruvate kinase deficiency
Hemoglobinopathies: Sickle cell disease, thalassemias
2. Extrinsic (acquired) causes:
Autoimmune: Warm/cold autoimmune hemolytic anemia
Mechanical: Prosthetic heart valves, microangiopathic hemolytic anemia
Infections: Malaria
Drugs/toxins: Certain antibiotics, chemicals
Pathophysiology
RBC destruction → ↑ unconjugated bilirubin → jaundice
Compensatory erythropoiesis → reticulocytosis
Chronic hemolysis → splenomegaly
Clinical Features.
Fatigue, pallor
Jaundice, dark urine
Splenomegaly (especially in hereditary forms)
Gallstones (chronic hemolysis)
Laboratory Findings.
CBC: anemia with reticulocytosis
Peripheral smear: spherocytes, sickle cells, schistocytes
LDH ↑, haptoglobin ↓, indirect bilirubin ↑
Direct antiglobulin test (DAT/Coombs) positive in autoimmune forms
Management.
Depends on cause:
Hereditary: folic acid supplementation, splenectomy in severe cases
Autoimmune: corticosteroids, immunosuppressants
Supportive: transfusions if severe anemia, avoidance of triggers (e.g., drugs in G6PD deficiency)
There is evidence that hemolytic anemia can be caused by mutation in the hexokinase-1 (HK1) gene encoded on genomic coordinate 10:69,270,000 and cytoband 10q22.1 in humans.
