New clinical and biochemical findings from 235 patients with hemoglobin Lepore.
The study of 76 Leporian families with 214 heterozygous, 9 homozygous, and 12 combinations with different type of thalassemia has allowed the authors to discuss three points: (1) The homozygous condition for Hb Lepore was until now found only in 19 people worldwide. The affirmation that this state is always similar to classic Cooley's anemia cannot be confirmed by us because the majority of our patients did not have a very severe anemia and they are still alive and in a fairly good condition. Splenectomy is always useful. In two of our patients it was found that the ratios between delta + beta and alpha mRNA agreed well with the delta beta/alpha chain biosynthetic ratio. (2) Two new forms of combined Leporian conditions were investigated. These are the combinations of Hb Lepore with delta beta thalassemia and a variant of beta thalassemia, namely, the isolated-high-Hb-A2 beta thalassemia. Both diseases present the same Hb pattern as that of homozygous Hb Lepore. Both presented a mild course also. (3) The multiform and very large experience (more than 5000 cases of genotypical hemoglobinopathies observed in the last 20 years) led us to observe that in carriers of Hb Lepore there was frequently the concomitance of malignancies, especially hemolymphoblastoses. In fact, the risk of such malignancies in the Hb Lepore carriers is 10 times higher than for thalassemics. The explanation of this finding is uncertain. It is possible, however, that the peculiar abnormality of Hb Lepore may be related to malignancy.
D000328:Adult; D001803:Blood Transfusion; D005260:Female; D005838:Genotype; D005914:Globins / Q000096:biosynthesis; D006443:Hemoglobin A2 / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007558:Italy; D009369:Neoplasms / Q000150:complications; D011247:Pregnancy; D012333:RNA, Messenger / Q000235:genetics; D013156:Splenectomy; D013789:Thalassemia / Q000097:blood / Q000235:genetics* / Q000628:therapy
D006455:Hemoglobins, Abnormal; D012333:RNA, Messenger; D005914:Globins; D006443:Hemoglobin A2