Blood Spot Disorders: Hemoglobin Disorders

Alpha thalassemia

FINDING
Hemoglobin Barts is present.

OTHER ASSOCIATED DISORDERS
None

CAUSE
Not able to produce enough hemoglobin to carry oxygen to the body.

EARLY SIGNS
There are multiple types of alpha thalassemia. Some children have little to no symptoms, in what is called silent carrier or alpha thalassemia trait, while others can have serious health problems, in hemoglobin H disease or alpha thalassemia major.

TREATMENT
Treatment is not needed for those who are silent carriers or have alpha thalassemia trait. Children with hemoglobin H disease will need blood transfusions for significant anemia and those with alpha thalassemia major will need treatment by a hematologist to survive.

DISORDER GROUP
Hemoglobinopathies

SCREENING METHOD
Isoelectric focusing (IEF) and high performance liquid chromatography (HPLC)

FACT SHEETS
For Family - Barts present (PDF)
For Provider - Barts present (PDF)

SPECIALIST CONTACT LIST
Hematology specialist contact list (PDF)

Hemoglobin C disease (FC)

FINDING
Hemoglobin C only is present in the body; no hemoglobin A.

OTHER ASSOCIATED DISORDERS
Hemoglobin C-beta thalassemia
Hemoglobin C-hereditary persistence of fetal hemoglobin

CAUSE
Red blood cells are not able to carry oxygen to the body correctly.

EARLY SIGNS
Most children never have symptoms. Some children are at risk for mild anemia (drop in red blood cell count). If untreated, it is possible to develop a large spleen and gallstones.

TREATMENT
Treatment is not always needed.

DISORDER GROUP
Hemoglobinopathies

SCREENING METHOD
Isoelectric focusing (IEF) and high performance liquid chromatography (HPLC)

FACT SHEETS
For Family - Positive result: FC (PDF)
For Provider - Positive result: FC (PDF)
For Provider - Guide to Determine if Hematology Consultation is Needed (PDF)

SPECIALIST CONTACT LIST
Hematology specialist contact list (PDF)

ADDITIONAL RESOURCES
Hemoglobin & Sickle Cell Trait information for families

Hemoglobin E disease (FE)

FINDING
Hemoglobin E only is present in the body; no hemoglobin A.

OTHER ASSOCIATED DISORDERS
Hemoglobin E-beta thalassemia

CAUSE
Red blood cells are not able to carry oxygen to the body correctly.

EARLY SIGNS
Most children never have symptoms. Some children are at risk for mild anemia (drop in red blood cell count) and smaller than normal red blood cells.

TREATMENT
Treatment is not always needed.

DISORDER GROUP
Hemoglobinopathies

SCREENING METHOD
Isoelectric focusing (IEF) and high performance liquid chromatography (HPLC)

FACT SHEETS
For Family - Positive result: FE (PDF)
For Provider - Positive result: FE (PDF)
For Provider - Guide to Determine if Hematology Consultation is Needed (PDF)

SPECIALIST CONTACT LIST
Hematology specialist contact list (PDF)

ADDITIONAL RESOURCES
Hemoglobin & Sickle Cell Trait information for families

Hemoglobin SC disease (FSC)

FINDING
Hemoglobin S and C are present in the body, but not hemoglobin A.

OTHER ASSOCIATED DISORDERS
None

CAUSE
Red blood cells are not able to carry oxygen to the body correctly.

EARLY SIGNS
Children are at risk for a drop in red blood cell count (anemia), large spleen, infections, painful crises, and lung disease.

TREATMENT
Consists of medications and occasionally blood transfusions.

DISORDER GROUP
Hemoglobinopathies

SCREENING METHOD
Isoelectric focusing (IEF) and high performance liquid chromatography (HPLC)

FACT SHEETS
For Family - Positive result: FSC (PDF)
For Provider - Positive result: FSC (PDF)
For Provider - Guide to Determine if Hematology Consultation is Needed (PDF)

SPECIALIST CONTACT LIST
Hematology specialist contact list (PDF)

ADDITIONAL RESOURCES
Hemoglobin & Sickle Cell Trait information for families

Hemoglobin trait

FINDING
Fetal (F) hemoglobin, adult (A) hemoglobin, and an abnormal hemoglobin are found in the body. The abnormal hemoglobin could be C, D, E, S, or an unidentified hemoglobin variant (V).

OTHER ASSOCIATED DISORDERS
None

CAUSE
Part of the red blood cell, called hemoglobin, is changed. Trait is passed on from parent to child.

EARLY SIGNS
Trait does not cause disease and can never become a disease. It does not cause any health problems. A person can have a hemoglobin trait and not know it.

TREATMENT
Treatment is not needed for people with hemoglobin trait.

DISORDER GROUP
Hemoglobinopathies

SCREENING METHOD
Isoelectric focusing (IEF) and high performance liquid chromatography (HPLC)

FACT SHEETS
For Family - FAC (PDF)
For Provider - FAC (PDF)
For Family - FAD (PDF)
For Provider - FAD (PDF)
For Family - FAE (PDF)
For Provider - FAE (PDF)
For Family - FAS (PDF)
For Provider - FAS (PDF)
For Family - FAV (PDF)
For Provider - FAV (PDF)

SPECIALIST CONTACT LIST
Hematology specialist contact list (PDF)

ADDITIONAL RESOURCES
Hemoglobin & Sickle Cell Trait information for families

Sickle cell disease (FS)

FINDING
Hemoglobin S is present in the blood, but there is no hemoglobin A.

OTHER ASSOCIATED DISORDERS
Sickle beta-zero thalassemia
Sickle-hereditary persistence of fetal hemoglobin

CAUSE
Red blood cells are not able to carry oxygen to the body correctly.

EARLY SIGNS
Children are at risk for a drop in red blood cell count (anemia), a large spleen, infections, painful crises, lung disease, and stroke.

TREATMENT
Consists of antibiotics to prevent infection, medications, and blood transfusions. Some pursue a stem cell transplant.

DISORDER GROUP
Hemoglobinopathies

SCREENING METHOD
Isoelectric focusing (IEF) and high performance liquid chromatography (HPLC)

FACT SHEETS
For Family - Positive result: FS (PDF)
For Provider - Positive result: FS (PDF)

SPECIALIST CONTACT LIST
Hematology specialist contact list (PDF)

ADDITIONAL RESOURCES
Hemoglobin & Sickle Cell Trait information for families