Abstract
Background. Thalassemia intermedia patients usually do not require blood transfusions; however, all show variable degrees of erythropoietic marrow expansion to compensate for more or less marked anemia, and this represents the major cause of complications in untransfused individuals. Materials and Methods. To assess the degree of erythropoietic expansion in thalassemia intermedia, serum erythropoietin (sEpo) and serum transferrin receptor (sTfr) were determined in thirty Italian patients characterized by their β-globin genotype. Results. Six patients showed inappropriately low sEpo levels (O/P ratio <0.85). Even excluding these cases, no clear relationship was observed between Hb levels and sEpo or sTfr. Two groups of patients were compared: the first with low HbF (+ genotypes, and the second with high HbF (>40%) that contained a prevalence of β(o) genotypes. Hb levels were similar in the two groups: 8.09±1.15 g/dL in low HbF and 8.82±1.28 g/dL in high HbF patients. Mean sEpo was 112±78.02 mU/mL (O/P ratio = 0.98±0.22) in the first and 246.62±184.30 mU/mL (O/P ratio = 1.25±0.30) in the second group, with a statistically significant difference, as expected, because of HbF oxygen hyperaffinity. No significant difference in sTfr levels was observed, indicating a comparable erythropoietic response in the two groups. Conclusions. The relationships between anemia, HbF and total erythropoiesis in thalassemia are more complex than expected. Further studies of subjects with high HbF and benign conditions, such as HPFH, could be of help in clarifying this point, to the aim of safely increasing HbF in thalassemia intermedia.
| Original language | English |
|---|---|
| Pages (from-to) | 397-403 |
| Number of pages | 7 |
| Journal | Haematologica |
| Volume | 81 |
| Issue number | 5 |
| Publication status | Published - 1996 |
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Keywords
- Erythropoiesis
- Fetal hemoglobin
- Serum transferrin receptor
- Thalassemia intermedia
ASJC Scopus subject areas
- Hematology
Cite this
Serum erythropoietin and circulating transferrin receptor in thalassemia intermedia patients with heterogeneous genotypes. / Camaschella, C.; Gonella, S.; Calabrese, R.; Vischia, F.; Roetto, A.; Graziadei, G.; Mazza, U.; Cappellini, M. D.
In: Haematologica, Vol. 81, No. 5, 1996, p. 397-403.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Serum erythropoietin and circulating transferrin receptor in thalassemia intermedia patients with heterogeneous genotypes
AU - Camaschella, C.
AU - Gonella, S.
AU - Calabrese, R.
AU - Vischia, F.
AU - Roetto, A.
AU - Graziadei, G.
AU - Mazza, U.
AU - Cappellini, M. D.
PY - 1996
Y1 - 1996
N2 - Background. Thalassemia intermedia patients usually do not require blood transfusions; however, all show variable degrees of erythropoietic marrow expansion to compensate for more or less marked anemia, and this represents the major cause of complications in untransfused individuals. Materials and Methods. To assess the degree of erythropoietic expansion in thalassemia intermedia, serum erythropoietin (sEpo) and serum transferrin receptor (sTfr) were determined in thirty Italian patients characterized by their β-globin genotype. Results. Six patients showed inappropriately low sEpo levels (O/P ratio <0.85). Even excluding these cases, no clear relationship was observed between Hb levels and sEpo or sTfr. Two groups of patients were compared: the first with low HbF (+ genotypes, and the second with high HbF (>40%) that contained a prevalence of β(o) genotypes. Hb levels were similar in the two groups: 8.09±1.15 g/dL in low HbF and 8.82±1.28 g/dL in high HbF patients. Mean sEpo was 112±78.02 mU/mL (O/P ratio = 0.98±0.22) in the first and 246.62±184.30 mU/mL (O/P ratio = 1.25±0.30) in the second group, with a statistically significant difference, as expected, because of HbF oxygen hyperaffinity. No significant difference in sTfr levels was observed, indicating a comparable erythropoietic response in the two groups. Conclusions. The relationships between anemia, HbF and total erythropoiesis in thalassemia are more complex than expected. Further studies of subjects with high HbF and benign conditions, such as HPFH, could be of help in clarifying this point, to the aim of safely increasing HbF in thalassemia intermedia.
AB - Background. Thalassemia intermedia patients usually do not require blood transfusions; however, all show variable degrees of erythropoietic marrow expansion to compensate for more or less marked anemia, and this represents the major cause of complications in untransfused individuals. Materials and Methods. To assess the degree of erythropoietic expansion in thalassemia intermedia, serum erythropoietin (sEpo) and serum transferrin receptor (sTfr) were determined in thirty Italian patients characterized by their β-globin genotype. Results. Six patients showed inappropriately low sEpo levels (O/P ratio <0.85). Even excluding these cases, no clear relationship was observed between Hb levels and sEpo or sTfr. Two groups of patients were compared: the first with low HbF (+ genotypes, and the second with high HbF (>40%) that contained a prevalence of β(o) genotypes. Hb levels were similar in the two groups: 8.09±1.15 g/dL in low HbF and 8.82±1.28 g/dL in high HbF patients. Mean sEpo was 112±78.02 mU/mL (O/P ratio = 0.98±0.22) in the first and 246.62±184.30 mU/mL (O/P ratio = 1.25±0.30) in the second group, with a statistically significant difference, as expected, because of HbF oxygen hyperaffinity. No significant difference in sTfr levels was observed, indicating a comparable erythropoietic response in the two groups. Conclusions. The relationships between anemia, HbF and total erythropoiesis in thalassemia are more complex than expected. Further studies of subjects with high HbF and benign conditions, such as HPFH, could be of help in clarifying this point, to the aim of safely increasing HbF in thalassemia intermedia.
KW - Erythropoiesis
KW - Fetal hemoglobin
KW - Serum transferrin receptor
KW - Thalassemia intermedia
UR - http://www.scopus.com/inward/record.url?scp=0030326422&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0030326422&partnerID=8YFLogxK
M3 - Article
C2 - 8952151
AN - SCOPUS:0030326422
VL - 81
SP - 397
EP - 403
JO - Haematologica
JF - Haematologica
SN - 0390-6078
IS - 5
ER -