Hemoglobinopathy evaluation

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HEMOGLOBINOPATHY EVALUATION

• A BRIEF INTRODUCTION

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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.

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• 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.

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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

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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.

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Basic hemoglobinopathy testing process

• Primary Abnormal
  Report
• screening result
  normal
• Secondary Abnormal
  Report
• screening result
  normal
• Report
• 
  abnormal
  

NO
YES
NO
YES
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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.

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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

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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.

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THANKS