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Learn the steps for Stem Cell Diagnosis and Evaluation, including specialized blood tests, bone marrow biopsy, and genetic testing for stem cell disorders.
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The diagnosis of Thalassemia is a precise exercise in hematological investigation. Unlike some conditions, which rely on subjective symptoms for diagnosis, Thalassemia is diagnosed through objective quantitative analysis of blood. In many countries with high prevalence, such as Turkey, universal screening programs—including premarital and newborn screening—have revolutionized the landscape, enabling the identification of carriers and affected infants before clinical symptoms appear.
The initial suspicion of Thalassemia typically arises from a Complete Blood Count (CBC).
Confirmatory diagnosis relies on analyzing the specific types of hemoglobin present.
DNA analysis is the ultimate arbiter of diagnosis, especially for determining prognosis and eligibility for regenerative therapies.
Once a diagnosis of Thalassemia Major is confirmed, the focus shifts to evaluating the patient for a curative stem cell transplant. This is a comprehensive physiological audit.
HLA Typing (Human Leukocyte Antigen)
This is the most critical step. HLA markers are cell-surface proteins that regulate the immune system.
Assessment of Iron Burden
Before transplant, the extent of iron overload must be quantified, as excess iron increases the toxicity of the transplant conditioning.
Organ Function Testing
For couples who are both carriers, prenatal diagnosis is available.
Send us all your questions or requests, and our expert team will assist you.
Both conditions cause small, pale red blood cells (microcytosis). However, iron deficiency is caused by a lack of iron and is characterized by low ferritin levels. Thalassemia trait is genetic; iron levels are typically normal or high. Mistaking Thalassemia trait for iron deficiency is dangerous because giving iron supplements to a Thalassemia carrier can cause iron overload.
Yes. Hemoglobin F (fetal hemoglobin) is a healthy type of hemoglobin. Patients with Thalassemia who naturally continue to produce high levels of Hemoglobin F often have milder symptoms because the F-hemoglobin compensates for the lack of A-hemoglobin and protects the red cells from damage.
A savior sibling is a child conceived through IVF with Preimplantation Genetic Diagnosis (PGD). The embryo is selected to be free of Thalassemia and a perfect HLA match for an older sibling with Thalassemia Major. Stem cells from the newborn’s umbilical cord are used to transplant and cure the older child.
While electrophoresis confirms the type of Thalassemia, genetic testing identifies the exact mutation. This helps predict the severity of the disease (genotype-phenotype correlation) and is essential for prenatal testing for future pregnancies and for checking family members.
Liver biopsy was historically the gold standard for measuring iron load, but it is invasive. Today, specialized MRI scans (called T2* or R2 MRI) can accurately measure iron levels in the liver and heart without needles, so biopsies are rarely needed for this purpose anymore.
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