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Hemoglobinopathies-Non-Sickle Cell

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Textbook of Clinical Pediatrics

Introduction

The globin part of the normal human hemoglobins (Hb A, F, and A2) consists of two alpha and two non-alpha chains (β in hemoglobin A, γ in hemoglobin F and δ in hemoglobin A2). Hemoglobinopathies result from genetic mutations causing structural changes in one of the globin chains by adding, deleting, or exchange of one or more amino acid. Over 800 mutations have been identified. The majority of these mutant hemoglobins are innocuous. A few of them, however, cause lifelong serious and sometimes fatal health problems. The following hemoglobinopathies will be discussed in this chapter, either because of high prevalence in certain ethnic groups or geographical area and/or their clinical severity either alone or in co-inheritance with sickle cell disease or thalassemia:

  • Hemoglobin C

  • Hemoglobin E

  • Hemoglobin D

  • Hemoglobin O Arab

  • Unstable hemoglobins

  • High oxygen affinity hemoglobins

Hemoglobin C

Pathogenesis and Incidence

Hemoglobin C results from a genetic mutation, resulting in...

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Authors and Affiliations

  1. Jordan Hospital, P.O. Box 520248, Queen Nour Street, Amman, 11152, Jordan

    Dr. Ahmad A. Mallouh M.D. (Consultant, Pediatric Hematologist/Oncologist)

Authors
  1. Dr. Ahmad A. Mallouh M.D.
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Corresponding author

Correspondence to Ahmad A. Mallouh M.D. .

Editor information

Editors and Affiliations

  1. Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia

    Abdelaziz Y. Elzouki (Professor of Pediatrics) (Professor of Pediatrics)

  2. National Center of Allergy, Asthma & Immunology (NCAAI), Riyadh, Saudi Arabia

    Harb A. Harfi (Director) (Director)

  3. Consultant Pediatric Gastroenterology & Hepatology, Islamic Hospital, Amman, Jordan

    Hisham M. Nazer

  4. Seattle Children's Hospital University of Washington, School of Medicine, Seattle, WA, USA

    F. Bruder Stapleton (Professor and Chair Department of Pediatrics) (Professor and Chair Department of Pediatrics)

  5. Alpert Medical School of Brown University, Woman and Infants Hospital, Providence, RI, USA

    William Oh (Professor of Pediatrics) (Professor of Pediatrics)

  6. University of Alabama, Birmingham, AL, USA

    Richard J. Whitley (Professor of Pediatrics) (Professor of Pediatrics)

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Mallouh, A.A. (2012). Hemoglobinopathies-Non-Sickle Cell. In: Elzouki, A.Y., Harfi, H.A., Nazer, H.M., Stapleton, F.B., Oh, W., Whitley, R.J. (eds) Textbook of Clinical Pediatrics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-02202-9_325

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  • DOI: https://doi.org/10.1007/978-3-642-02202-9_325

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-02201-2

  • Online ISBN: 978-3-642-02202-9

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