Related Experiment Videos
[Hasharon hemoglobinopathy in a family]
L R Tamburrini1, E Ponte, M Benedetti
1II Cattedra di Geriatria e Gerontologia, Università degli Studi di Trieste.
Minerva Medica
|November 1, 1994
Summary
Hasharon haemoglobinopathy, a condition seen in Northeast Italy, presents with splenomegaly and low erythrocytosis. This study details its unique clinical and laboratory features in a family, suggesting a variant phenotype.
Area of Science:
- Hematology
- Genetics
Background:
- Hasharon haemoglobinopathy is a genetic blood disorder found in Northeast Italy.
- It is characterized by specific clinical and laboratory findings not extensively documented in existing literature.
Observation:
- An 18-year-old athlete, a carrier of Hasharon haemoglobinopathy, exhibited splenomegaly and recurrent low erythrocytosis with iron deficiency and elevated reticulocytes.
- Similar laboratory findings were noted in his father and paternal grandmother, who were also heterozygous carriers.
Findings:
- Isoelectrofocusing on polyacrylamide gel confirmed the diagnosis in all affected family members.
- The observed Hasharon haemoglobinopathy phenotype may represent a variant, potentially linked to alpha-globin chain synthesis anomalies.
- Serum iron deficiency suggests increased iron consumption, possibly to support heightened erythropoiesis.
Implications:
- The findings suggest a distinct variant of Hasharon haemoglobinopathy with unique clinical manifestations.
- Further research may explore potential associated abnormalities and the precise mechanisms of this haemoglobinopathy variant.