Hemoglobinopathies

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Brief Description

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

Laboratory Unit

Newborn Screening

Methodology

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

Specimen Collection

Missouri newborn screening samples must only be collected on the FDA approved blood collection forms that are provided by the MSPHL and must be pre-purchased at a cost of $65 per collection form.  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".

Storage/Transport

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

Acceptable Specimen
Type(s)

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

The Hemoglobin Laboratory also accepts whole blood specimens for confirmatory or family testing (see Whole Blood Testing in the Additional Information section).

Test Request Form(s)

Included in kit

Possible Results

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.

Reference Range

The Hemoglobin screen is primarily a qualitative test.  Results are reported by listing the hemoglobins that are present with "normal" or "abnormal".  For example, a normal result for a newborn will show hemoglobins F and A are present and "normal" as the result.  Any further information or recommendations are printed under the comments section of the laboratory report.  Trait carriers of many of the hemoglobinopathies that are listed above can be detected with the exception of beta thalassemia trait.  Beta Thalassemia trait cannot be detected in newborns using IEF and HPLC.

Unacceptable Conditions

Poor Quality Specimens

Interfering Substances

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

Result Reported

1 to 3 working days after receipt of specimen

Fees

$65 charge – for full panel of screening disorders

CPT Codes

83020

LOINC/SNOMED Codes

N/A

Additional Information

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.

Whole Blood Testing:  Whole blood testing on infants and their parents is offered when the infant has a disease condition, trait condition, or an-unidentified hemoglobin.  The MSPHL can provide blood collection kits and testing at no charge.  Contact the Newborn Screening Unit at (573) 751-2662 for information.

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