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