A patient with beta-thalassemia may be asymptomatic or not, depending on what genes have been inherited. The severity of the anemia correlates with complications.
Parameters:
(1) severity of anemia
(2) mean cell volume (MCV)
(3) splenomegaly
(4) bone lesions
(5) transfusion requirements
(6) iron overload
(7) symptoms
|
Parameter |
Thalassemia Trait |
Thalassemia Intermedia |
|
anemia |
none to mild |
mild to moderate |
|
MCV |
variable, may be normal |
microcytosis |
|
splenomegaly |
absent |
present |
|
bone lesions |
absent |
may be present or absent |
|
transfusion requirements |
none |
does not require regular transfusion |
|
iron overload |
none |
may be present |
|
symptoms |
asymptomatic |
asymptomatic to severely symptomatic |
|
Parameter |
Thalassemia Major |
Hemoglobin E Thalassemia |
|
anemia |
severe, lifelong |
mild to severe |
|
MCV |
microcytosis |
|
|
splenomegaly |
present |
present |
|
bone lesions |
present, may be less severe if regularly transfused |
present |
|
transfusion requirements |
significant and lifelong; requires regular transfusion |
mild to significant |
|
iron overload |
severe |
dependent on transfusion requirements |
|
symptoms |
severely symptomatic |
asymptomatic to severely symptomatic |
A person may be reclassified as thalassemia intermedia following splenectomy if regular transfusions are no longer required.
Purpose: To determine the clinical syndrome experienced by a patient with beta-thalassemia.
Specialty: Hematology Oncology, Clinical Laboratory, Genetics
Objective: clinical diagnosis, including family history for genetics
ICD-10: D56, D56.1,
