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Thalassemia

Garland E. Anderson, II, MD Reviewed 06/2019
 


BASICS

DESCRIPTION

  • A group of inherited hematologic disorders that affect the synthesis of adult hemoglobin tetramer (HbA) (1),(2)[C]

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

DIAGNOSIS

Thalassemia (minor) trait has no signs or symptoms. 

HISTORY

  • Poor growth

  • Excessive fatigue

  • Cholelithiasis

  • Pathologic fractures

  • Shortness of breath

PHYSICAL EXAM

  • Pallor

  • Splenomegaly

  • Jaundice

  • Maxillary h...

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
Higgs DR, Engel JD, Stamatoyannopoulos G. Thalassaemia. Lanc...

ADDITIONAL READING

  • Paulson RF. Targeting a new regulator of erythropoiesis to alleviate anemia. Nat Med.  2014;20(4):334–335. [View Abstract on OvidMedline]

  • Piel FB, Weatherall DJ. The α-thalassem...

CODES

ICD10

  • D56.9 Thalassemia, unspecified

  • D56.1 Beta thalassemia

  • D56.0 Alpha thalassemia

  • D56.3 Thalassemia minor

ICD9

  • 282.40 Thalassemia, unspecified

  • 282.44 Beta thalassemia

  • 282.43 Alpha thalassemia

  • 282.46 Th...

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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