Hemoglobinopathies

Hemoglobinopathies result from abnormalities in the hemoglobin molecule. These abnormalities occur from genetic mutations that cause either the synthesis of abnormal hemoglobins or the decreased synthesis of normal hemoglobin chains. Newborns identified with a hemoglobinopathy are referred to a contracted medical center for diagnostic evaluation.

Quick Facts

Newborn Screening

Isoelectric Focusing (IEF)
Any abnormal results are confirmed using High Performance Liquid Chromatography (HPLC)

Missouri newborn screening samples must only be collected on the Food and Drug Administration (FDA) approved blood collection forms that must be pre-purchased from the MSPHL. The optimum collection time is between 24 and 48 hours-of-age. The instructions for collecting the samples are listed on the back of the collection form. All 5 circles on the filter paper need to be filled with blood from one side and then air dried for at least 3 hours in a horizontal position without allowing the blood to touch any surface during drying, including other parts of the card (see image).
See "Rules for Collection".

Store the dried blood samples at room temperature in the envelopes provided by the MSPHL and transport within 24 hours of collection.

Initial Screen (the red form) or Repeat Screen (the green form)

Included in kit

The hemoglobinopathies that we screen for are:

• Sickle Cell Disease (Hb S/S)
• Sickle Hemoglobin C Disease (Hb S/C)
• Sickle Beta Zero Thalassemia Disease
• Sickle Beta Plus Thalassemia Disease
• Sickle Hemoglobin D Disease
• Sickle Hemoglobin E Disease
• Sickle Hemoglobin O-Arab Disease
• Sickle Hemoglobin Lepore Boston Disease
• Sickle HPFH Disorder, Sickle "Unidentified"
• Hemoglobin C Beta Zero Thalassemia Disease
• Hemoglobin C Beta Plus Thalassemia Disease
• Hemoglobin E Beta Zero Thalassemia Disease
• Hemoglobin E Beta Plus Thalassemia Disease
• Hemoglobin H Disease
• Homozygous Beta Zero Thalassemia Disease
• Homozygous C Disease
• Homozygous E Disorder
• Double Heterozygous Beta Thalassemia Disease

Final results for these conditions are phoned and faxed to the physician and appropriate follow up center.  Follow up centers are contracted by the Department of Health and Senior Services (DHSS) for follow up tracking, testing, diagnosis, and parent counseling.

Poor Quality Specimens

Sample collection after a transfusion with red blood cells invalidates hemoglobin test results for a minimum of 90 days post transfusion.  It is recommended that a sample is collected prior to a transfusion, if at all possible.  If a baby has been transfused prior to sample collection, please note it on the collection form.

NICU Guidelines and Key for NBS

1 to 3 working days after receipt of specimen

$95 charge – for full panel of screening disorders

83020

N/A

Prevalence of Hemoglobinopathy Disease Conditions in Missouri: 1:400 for Sickle Cell Disease in African-Americans, 1:3000 for Sickle Cell Disease in General Population, and 1:1700 for All Hemoglobinopathies in General Population.

Prevalence of Common Hemoglobin Traits: 1:12 for Sickle Cell trait in African-Americans, 1:30 for Hemoglobin C trait in African-Americans, 1:10 for Hemoglobin E trait in Southeast Asians, and 1:10,000 for Hemoglobin D trait in Caucasians.

For more information on this Disorder, visit the DHSS Newborn Screening website.