Hemoglobinopathy

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WikiDoc Resources for Hemoglobinopathy
Articles
Most recent articles on Hemoglobinopathy Most cited articles on Hemoglobinopathy Review articles on Hemoglobinopathy Articles on Hemoglobinopathy in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on Hemoglobinopathy Images of Hemoglobinopathy Photos of Hemoglobinopathy Podcasts & MP3s on Hemoglobinopathy Videos on Hemoglobinopathy
Evidence Based Medicine
Cochrane Collaboration on Hemoglobinopathy Bandolier on Hemoglobinopathy TRIP on Hemoglobinopathy
Clinical Trials
Ongoing Trials on Hemoglobinopathy at Clinical Trials.gov Trial results on Hemoglobinopathy Clinical Trials on Hemoglobinopathy at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Hemoglobinopathy NICE Guidance on Hemoglobinopathy NHS PRODIGY Guidance FDA on Hemoglobinopathy CDC on Hemoglobinopathy
Books
Books on Hemoglobinopathy
News
Hemoglobinopathy in the news Be alerted to news on Hemoglobinopathy News trends on Hemoglobinopathy
Commentary
Blogs on Hemoglobinopathy
Definitions
Definitions of Hemoglobinopathy
Patient Resources / Community
Patient resources on Hemoglobinopathy Discussion groups on Hemoglobinopathy Patient Handouts on Hemoglobinopathy Directions to Hospitals Treating Hemoglobinopathy Risk calculators and risk factors for Hemoglobinopathy
Healthcare Provider Resources
Symptoms of Hemoglobinopathy Causes & Risk Factors for Hemoglobinopathy Diagnostic studies for Hemoglobinopathy Treatment of Hemoglobinopathy
Continuing Medical Education (CME)
CME Programs on Hemoglobinopathy
International
Hemoglobinopathy en Espanol Hemoglobinopathy en Francais
Businness
Hemoglobinopathy in the Marketplace Patents on Hemoglobinopathy
Experimental / Informatics
List of terms related to Hemoglobinopathy

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Hemoglobinopathy is a kind of genetic defect that results in abnormal structure of one of the globin chains of the hemoglobin molecule. Most common hemoglobinopathies include sickle-cell disease.

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 a different shape under anaerobic conditions, leading to organ damage and circulatory problems, while in thalassemia there is ineffective production of red blood cells (erythropoiesis).

Migration patterns

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.

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 Hgb 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.

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

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.

Acknowledgements

The content on this page was first contributed by: C. Michael Gibson, M.S., M.D.

Initial content for this page in some instances came from Wikipedia

List of contributors:

Suggested Reading and Key General References

Suggested Links and Web Resources

For Patients

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v • d • e Pathology: hematology, myeloid hematologic disease (primarily D50-D77, 280-289)
RBCs/ hemoglobinopathy	+ Polycythemia - Macrocytosis - Anemia Nutritional Iron deficiency anemia (Plummer-Vinson syndrome), Megaloblastic anemia (Pernicious anemia) Hemolytic Hereditary enzyme: G6PD Deficiency - Pyruvate kinase deficiency - Triosephosphate isomerase deficiency hemoglobin: Thalassemia - Sickle-cell disease/trait membrane: Hereditary spherocytosis - Hereditary elliptocytosis - Hereditary stomatocytosis Acquired Autoimmune (Warm, Cold), HUS, MAHA, PNH, PCH, Myelophthisic Aplastic Acquired PRCA, Diamond-Blackfan anemia, Fanconi anemia, Sideroblastic anemia Blood tests Normocytic - Microcytic - Macrocytic - Normochromic - Hypochromic Other Methemoglobinemia
Coagulation/platelets/ coagulopathy/ bleeding diathesis	+ 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) Other Essential thrombocytosis - clotting factor: Hemophilia (A/VIII, B/IX, C/XI) • Von Willebrand disease • Hypoprothrombinemia/II - XIII platelet function: Bernard-Soulier syndrome - Glanzmann's thrombasthenia - Gray platelet syndrome - May Hegglin anomaly - Pelger-Huet anomaly Purpura: Henoch-Schönlein, ITP (Evans syndrome), TTP Thrombocytopenia (Heparin-induced thrombocytopenia)
Monocytes/ macrophages	+ Histiocytosis WHO-I (Langerhans cell histiocytosis) WHO-II/non-Langerhans-cell (Juvenile xanthogranuloma, Hemophagocytic lymphohistiocytosis) WHO-III/malignant (Acute monocytic leukemia, Malignant histiocytosis, Erdheim-Chester disease) Other Chronic granulomatous disease -cytosis: Monocytosis - -penia: Monocytopenia
Granulocytes	+ -cytosis: granulocytosis (Neutrophilia, Eosinophilia, Basophilia) - -penia: Granulocytopenia/agranulocytosis (Neutropenia/Kostmann syndrome, Eosinopenia, Basopenia)
See also hematological malignancy and immune disorders

v • d • e WikiDoc Research Resources for Hemoglobinopathy
Articles on Hemoglobinopathy	Most recent articles on Hemoglobinopathy • Most cited articles on Hemoglobinopathy • Review articles on Hemoglobinopathy • Articles on Hemoglobinopathy in N Eng J Med, Lancet, BMJ
Media (Slides, Video, Images, MP3) on Hemoglobinopathy	Powerpoint slides on Hemoglobinopathy • Images of Hemoglobinopathy • Photos of Hemoglobinopathy • Podcasts & MP3s on Hemoglobinopathy • Videos on Hemoglobinopathy
Evidence Based Medicine Regarding Hemoglobinopathy	Cochrane Collaboration on Hemoglobinopathy • Bandolier on Hemoglobinopathy • TRIP on Hemoglobinopathy
Cost Effectiveness of Hemoglobinopathy	Cost Effectiveness of Hemoglobinopathy
Clinical Trials Involving Hemoglobinopathy	Ongoing Trials on Hemoglobinopathy at Clinical Trials.gov • Trial results on Hemoglobinopathy • Clinical Trials on Hemoglobinopathy at Google
Guidelines / Policies / Government Resources (FDA/CDC) Regarding Hemoglobinopathy	US National Guidelines Clearinghouse on Hemoglobinopathy • NICE Guidance on Hemoglobinopathy • NHS PRODIGY Guidance • FDA on Hemoglobinopathy • CDC on Hemoglobinopathy
Textbook Information on Hemoglobinopathy	Books and Textbook Information on Hemoglobinopathy
Pharmacology Resources on Hemoglobinopathy	Dosing of Hemoglobinopathy • Drug interactions with Hemoglobinopathy • Side effects of Hemoglobinopathy • Allergic reactions to Hemoglobinopathy • Overdose information on Hemoglobinopathy • Carcinogenicity information on Hemoglobinopathy • Hemoglobinopathy in pregnancy • Pharmacokinetics of Hemoglobinopathy •
Genetics, Pharmacogenomics, and Proteinomics of Hemoglobinopathy	Genetics of Hemoglobinopathy • Pharmacogenomics of Hemoglobinopathy • Proteomics of Hemoglobinopathy
Newstories on Hemoglobinopathy	Hemoglobinopathy in the news • Be alerted to news on Hemoglobinopathy • News trends on Hemoglobinopathy
Commentary on Hemoglobinopathy	Blogs on Hemoglobinopathy
Patient Resources on Hemoglobinopathy	Patient resources on Hemoglobinopathy • Discussion groups on Hemoglobinopathy • Patient Handouts on Hemoglobinopathy • Directions to Hospitals Treating Hemoglobinopathy • Risk calculators and risk factors for Hemoglobinopathy
Healthcare Provider Resources on Hemoglobinopathy	Symptoms of Hemoglobinopathy • Causes & Risk Factors for Hemoglobinopathy • Diagnostic studies for Hemoglobinopathy • Treatment of Hemoglobinopathy
Continuing Medical Education (CME) Programs on Hemoglobinopathy	CME Programs on Hemoglobinopathy
International Resources on Hemoglobinopathy	Hemoglobinopathy en Espanol • Hemoglobinopathy en Francais
Business Resources on Hemoglobinopathy	Hemoglobinopathy in the Marketplace • Patents on Hemoglobinopathy
Informatics Resources on Hemoglobinopathy	List of terms related to Hemoglobinopathy

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Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .