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Thalassemia

Garland E. Anderson II, MD Reviewed 05/2023
 


BASICS

DESCRIPTION

  • A group of inherited hematologic disorders that affect the synthesis of adult hemoglobin tetramer (HbA) (1)

  • α-Thalassemia is due to a deficient synthesis of α-globin chain, whereas β...

DIAGNOSIS

HISTORY

  • Poor growth

  • Excessive fatigue

  • Cholelithiasis

  • Pathologic fractures

  • Shortness of breath

PHYSICAL EXAM

  • Pallor

  • Splenomegaly

  • Jaundice

  • Maxillary hyperplasia/frontal bossing due to massive bone marro...

TREATMENT

  • Outpatient for mild cases

  • Inpatient for transfusion therapy

GENERAL MEASURES

  • Mild cases (trait or minor) require no therapy.

  • Thalassemia intermedia: No therapy is necessary unless hemoglobin fal...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

  • Thalassemia trait requires no restrictions.

  • β-Thalassemia major

    • Avoid strenuous activities (e.g., football, soccer).

    • Acceptable activity levels will be determined on...

REFERENCES

1
Muncie  HLJr, Campbell  J. Alpha and beta thalassemia. Am Fam Physician.  2009;80(4):339–344. [View Abstract on OvidMedline]
2
...

CODES

ICD10

  • D56.5 Hemoglobin E-beta thalassemia

  • D56.3 Thalassemia minor

  • D56.0 Alpha thalassemia

  • D56.4 Hereditary persistence of fetal hemoglobin [HPFH]

  • D56.8 Other thalassemias

  • D56.2 Delta-beta thalassemia

  • D...

CLINICAL PEARLS

  • Thalassemia (group of inherited hematologic disorders that affect the synthesis of adult hemoglobin tetramer) is a genetic condition; hemoglobin will not improve over time.

  • α-Thalassemi...

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