What is S-thalassemia

Diagnostics: How is ß-thalassemia diagnosed?

Author: Prof. Dr. med. Holger Cario, created on: February 6th, 2012, editing: Ingrid Grüneberg, approval: PD Dr. med. Gesche Tallen, Prof. Dr. med. Ursula Creutzig, last changed: February 5, 2020

If the doctor suspects ß-thalassemia based on the medical history (anamnesis) and after a physical examination of your child, he will take a blood sample for a blood count. If thalassemia is still suspected, the following tests are usually done to confirm the suspected diagnosis:

Investigations to confirm the diagnosis of ß-thalassemia

  • Blood count to determine the size and volume of the red blood cells as well as their red blood pigment content - ß-thalassemia is diagnosed if these parameters are severely reduced
  • microscopic examination of blood cells (blood smear) to assess the appearance of the red blood cells - in patients with ß-thalassemia these are paler (hypochromic), smaller (microcytic) than normal, of different sizes (anisocytic) and deformed (poikilocytic).
  • Hemoglobin analysis to determine the forms of hemoglobin such as "adult" hemoglobin (HbA1 and HbA2) or fetal hemoglobin (HbF) (see "causes“)
  • Molecular genetic examinations to search for the underlying defects (mutations) in the genetic information (gene) for the protein chains (globin chains) of the red blood pigment as well as to clarify additional genetic factors that may be present in thalassemia intermedia (see "Disease forms“)
  • Family examination (blood count, hemoglobin analysis and molecular genetic identification of the thalassemia mutations in the parents) for the preparation of genetic counseling and a later prenatal diagnosis

Parents of children with suspected thalassemia should know:
In addition to ß-thalassemia, there are other causes of anemia and enlargement of the spleen, which can also be associated with increased HbF levels. Except for children with suspicious complaints and at the same time typical ethnic origin (see “Occurrence and frequency") - be excluded by additional examinations before the start of treatment. Your child or family should receive professional advice, therapy planning and support in a special center by a treatment team that specializes in blood diseases in children and adolescents (Clinic for Pediatric Hematology).

Accompanying investigations

Further examinations may be necessary as the disease progresses in order to identify and treat complications related to the disease and treatment in good time or to prevent them. Carrying out the following follow-up examinations contributes significantly to an improved prognosis for children and adolescents with ß-thalassemia:

  • Regular physical examinations in the specialist center (about every three months) - mainly to monitor general condition, body growth and puberty development
  • Regular blood tests (individual) to assess anemia, monitor iron overload and early detection of possible complications (see Signs of illness)
  • Blood group determination and virus serology with regard to any blood transfusions that may become necessary
  • HLA typing (also for siblings) with regard to a possibly necessary stem cell transplant (see "treatment“)
  • Regular imaging examinations such as ultrasound of various organs (e.g. heart, liver) to monitor iron overload and to rule out or early detection of blood foci outside the bone marrow (see “Diseaseichen") (About once a year)
  • Regular examinations of the heart such as electrocardiography (EKG), echocardiography and magnetic resonance imaging (cardio-MRI) to monitor cardiac output (once a year from the age of 10)
  • X-ray examinations to monitor skeletal changes due to increased blood formation in the bone marrow (see “Signs of illness") (About once a year for older children)
  • Possibility of prenatal diagnosis in pregnant patients and genetic counseling

Annotation: Not all tests are necessary in every patient with thalassemia. Your healthcare team will tell you which diagnostic procedures your child will need in each case.

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Patient information on ß-thalassemia PDF file

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(Patient information on beta thalassemia in Arabic) معلومات المريض بيتا الثلاسيمياملف PDF