Patient's question:
A thorough examination of the alkali-resistant hemoglobin test showed an HbF result of 6.32009719, the child again developed hemolytic anemia. At that time, because the hemoglobin level rose to 56, surgery was performed. All examinations were conducted, but no cause was found. On December 12, 2009, a blood routine test showed hemoglobin at 130.3. Past treatment history and effectiveness: Wuhan Union Hospital recommended that we undergo a thalassemia gene chip test. Below is the content of the test report. Test items Thalassemia gene type speculation Test method β-thalassemia gene typing: PCR/reverse dot hybridization method α-thalassemia gene typing: PCR/agarose gel electrophoresis method Test content β-thalassemia gene mutation types: CD41-42, IVS-Ⅱ-645 (C-T), -28 (A-C), CD17 (A-T), CD71-72 (+A), βE (GAG-AAG), -29 (A-G), CD43 (G-T), CD27/28 (+C), CD14-15 (+G), CD31 (-C), -32 (C-A), -30 (T-C), IVS-Ⅰ-1 (G-T, G-A), IVS-Ⅰ-5 (G-C), CAP+1 (A-C), IntM (ATG-AGG) α-thalassemia gene mutation types: Southeast Asian type α gene deletion, α3.7 gene deletion, α4.2 gene deletion Gene test results α-thalassemia gene deletion type: αα/αα β-thalassemia gene mutation type: None of the 17 types of β-thalassemia gene mutations mentioned above. What kind of assistance is needed: Please help me confirm how to diagnose thalassemiaDoctor's answer:
On July 19, 2009, the child again exhibited hemolytic anemia. The genetic test results showed that the α-thalassemia gene defect type was αα/αα, and the β-thalassemia gene mutation type showed no presence of the 17 listed β-thalassemia gene mutations.Medical advice: Your child can be confirmed as having thalassemia. Thalassemia is also known as "sea anemia," with the medical term being "hemoglobinopathy." There are four types, among which α and β are the most common. Genetic diagnosis is the gold standard, and your child can be clearly diagnosed with α-thalassemia.