Hemoglobinopathy evaluation - PowerPoint PPT Presentation

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Hemoglobinopathy evaluation

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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. Hemoglobinopathy lab test is thus quite a needed test when you find the symptoms. It is more critical to check when you have a family history. In Dubai,diagnosis and treatment of hemoglobinopathy can be done from – PowerPoint PPT presentation

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Title: Hemoglobinopathy evaluation


1
HEMOGLOBINOPATHY EVALUATION
  • A BRIEF INTRODUCTION

2
Hemoglobinopathy
  • Hemoglobinopathy is a kind of genetic defect that
    results in abnormal structure of one of the
    globin chains of the hemoglobin molecule.
  • Sickle cell disease (SCD) is one such blood
    disorder caused by the abnormal hemoglobin that
    damages and deforms red blood cells.
  • The abnormal red cells break down, causing
    anemia, and obstruct blood vessels, leading to
    recurrent episodes of severe pain and multi-organ
    ischemic damage.

3
  • Thalassemia is also an inherited blood disorder
    characterized by abnormal hemoglobin
    production.They usually result in under
    production of normal global proteins, often
    through mutations in regulatory genes.
  • The above two conditions may overlap and
    hemoglobinopathy also affect production of
    thalassemia.
  • Thus some Hemoglobinopathies are Thalassemia and
    some are not.

4
Symptoms of hemoglobinopathy
  • The symptoms for hemoglobinopathy generally show
    up in the early stages of birth. However, there
    had been cases where they appeared only during or
    post childhood. Even in some kids these symptoms
    never appear at all. But it is recommended to
    consult a doctor in case you notice any of these
  • Taking long and recurrent sleeps
  • Exhaustion
  • Breathing problems
  • Swollen painful feet and hands
  • Coldness on feet and hands
  • Yellow skin

5
Hemoglobinopathy evaluation
  • Hemoglobinopathy evaluation group of profile
    blood tests helps in the diagnosis of
    hemoglobinopathy and thalassemia.
  • It is also known as Hemoglobin fractionation, Hb
    ELP, Hb IEF, Sickle cell screen.
  • This test doesn't require prior doctor visit and
    not even require prior fasting too.

6
Basic hemoglobinopathy testing process
  • Primary Abnormal
    Report
  • screening result
    normal
  • Secondary Abnormal
    Report
  • screening result
    normal
  • Report

  • abnormal

NO
YES
NO
YES
7
Treatment for hemoglobinopathies
  • Hemoglobinopathy has to be treated immediately
    upon noticing the symptoms. Till date we don't
    have any wonder-drug for this but the following
    treatments are prescribed by doctors everywhere
  • Fluid nourishment In order to reduce the pain
    kids suffering from this condition need to be
    hydrated with plenty of fluids such as water.
  • Painkillers Doctors usually prescribe
    painkillers for this condition so as to reduce
    the pain.  
  • Blood transfusion This is the most common
    treatment done on such kids. Since they don't
    have healthy RBC, they are donated healthy blood.

8
How hemoglobinopathy evaluation is done?
  • There is no single test to identify
    hemoglobinopathy. The doctor always prescribes a
    group of tests before concluding whether the
    child is affected or not. The common tests to
    determine the properties of hemoglobin and the
    likelihood of hemoglobinopathy are
  • CBC
  • Blood smear
  • Reticulocyte count
  • Serum iron, TIBC, transferrin
  • Genetic testing
  • Hemoglobin solubility test
  • Hemoglobin gel electrophoresis
  • Hemoglobin isoelectric focusing
  • Hemoglobin by high performance liquid
    chromatography (HPLC)
  • Hemoglobin by capillary zone electrophoresis
  • Hemoglobin by mass spectrometry

9
SUMMARY
  • Hemoglobinopathy lab test is thus quite a needed
    test when you find the symptoms.
  • It is more critical to check when you have a
    family history.

10
THANKS
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