Coexistence of two β-globin gene deletions in a Chinese girl with β-thalassemia minor.

This study reports a rare case of β(41/42,Cap)/β(A) genotype in a girl with β-thalassemia (β-thal) minor. The 13-month-old Chinese proband suffered anemia, diarrhea, stunted growth and emaciation. The routine polymerase chain reaction-reverse dot-blot (PCR-RDB) test result for β-thal mutations indicated that she was a compound heterozygote for β(41/42) and β(Cap).