Hemoglobinopathy
Classification and external resources
ICD-10	D58.2
ICD-9	282.7
DiseasesDB	19674
MeSH	D006453

Hemoglobinopathy is a kind of genetic defect that results in abnormal structure of one of the globin chains of the hemoglobin molecule.^[1] Hemoglobinopathies are inherited single-gene disorders; in most cases, they are inherited as autosomal co-dominant traits. ^[2] Common hemoglobinopathies include sickle-cell disease. It is estimated that 7% of worlds population (420 million) are carriers, with 60% of total and 70% pathological being in Africa. Hemoglobinopathies are most common in ethnic populations from Africa, the Mediterranean basin and Southeast Asia.

Contents 1 Symptoms 2 Migration patterns 2.1 Migration patterns (Alkaline Electrophoresis) 2.2 Migration patterns (Acid Electrophoresis) 3 Common variants 4 Hemoglobinopathy and evolution 5 References

[edit] Symptoms

Most clinically significant hemoglobinopathies cause mild to acute anemia, in rare cases hemolytic anemia. Symptoms vary for the different diseases: in sickle-cell disease the red blood cells tend to assume an abnormal shape under anaerobic conditions, leading to organ damage and circulatory problems, while in thalassemia there is ineffective production of red blood cells (erythropoiesis).

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[edit] Migration patterns

[edit] Migration patterns (Alkaline Electrophoresis)

In general on alkaline electrophoresis in order of increasing mobility are hemoglobins A2, E=O=C, G=D=S=Lepore, F, A, K, J, Bart's, N, I, and H.

In general a sickling test (sodium bisulfite) is performed on abnormal hemoglobins migrating in the S location to see if the red cells precipitate in solution.

[edit] Migration patterns (Acid Electrophoresis)

In general on acid electrophoresis in order of increasing mobility are hemoglobins F, A=D=G=E=O=Lepore, S, and C.

This is how abnormal hemoglobin variants are isolated and identified using these two methods. For example a Hgb G-Philadelphia would migrate with S on alkaline electrophoresis and would migrate with A on acid electrophoresis, respectively.

[edit] Common variants

• Hb S
• Hb C
• Hb E
• Hb D-Punjab
• Hb O-Arab
• Hb G-Philadelphia
• Hb Hasharon
• Hb Korle-Bu
• Hb Lepore
• Hb M

[edit] Hemoglobinopathy and evolution

Some hemoglobinopathies (and also related diseases like glucose-6-phosphate dehydrogenase deficiency) seem to have given an evolutionary benefit, especially to heterozygotes, in areas where malaria is endemic. Malaria parasites live inside red blood cells, but subtly disturb normal cellular function. In patients predisposed for rapid clearance of red blood cells, this may lead to early destruction of cells infected with the parasite and increased chance of survival for the carrier of the trait.

[edit] References

v • d • e Pathology: hematology · hematologic diseases of RBCs and megakaryocytes / MEP (D50-69,74, 280-287) Red blood cells ↑ Polycythemia Polycythemia vera ↓ Anemia Nutritional Micro-: Iron deficiency anemia (Plummer-Vinson syndrome) Macro-: Megaloblastic anemia (Pernicious anemia) Hemolytic (mostly Normo-) Hereditary enzymopathy: G6PD · glycolysis (PK, TI, HK) hemoglobinopathy: Thalassemia (alpha, beta, delta)  · Sickle-cell disease/trait · HPFH membrane: Hereditary spherocytosis (Minkowski-Chauffard syndrome) · Hereditary elliptocytosis (Ovalocytosis) · Hereditary stomatocytosis Acquired Autoimmune (WAHA, CAD, PCH) membrane (PNH) MAHA · TM (HUS) Drug-induced autoimmune · Drug-induced nonautoimmune Hemolytic disease of the newborn Aplastic (mostly Normo-) Hereditary: Fanconi anemia · Diamond-Blackfan anemia Acquired: PRCA · Sideroblastic anemia · Myelophthisic Blood tests MCV (Normocytic, Microcytic, Macrocytic) · MCHC (Normochromic, Hypochromic) Other Methemoglobinemia · Sulfhemoglobinemia · Reticulocytopenia Coagulation/ coagulopathy/ bleeding diathesis ↑ Thrombocytosis Essential thrombocytosis Hypercoagulability primary: Antithrombin III deficiency · Protein C deficiency/Activated protein C resistance/Protein S deficiency/Factor V Leiden · Hyperprothrombinemia acquired: DIC (Congenital afibrinogenemia, Purpura fulminans) · autoimmune (Antiphospholipid) ↓ Thrombocytopenia and purpura Nonthrombocytopenic purpura: Henoch-Schönlein purpura Thrombocytopenic purpura: ITP (Evans syndrome) · TM (TTP) Heparin-induced thrombocytopenia · May-Hegglin anomaly Platelet function adhesion (Bernard-Soulier syndrome) · aggregation (Glanzmann's thrombasthenia) · platelet storage pool deficiency (Hermansky-Pudlak syndrome, Gray platelet syndrome) Clotting factor Hemophilia (A/VIII, B/IX, C/XI) • Von Willebrand disease • Hypoprothrombinemia/II · XIII myeloid navs: cells/physio, disease of RBCs+megakaryocytes/monocytes+granulocytes/neoplasia, symptoms+signs/eponymous ↑ means increased, ↓ means decreased