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Factors regulating Hb F synthesis in thalassemic diseases.

Mastropietro F, Modiano G, Cappabianca M, Foglietta E, D'Asero C, Mezzabotta M, Ponzini D, Maffei L, Amato A, Lerone M, Grisanti P, Di Biagio P, Rinaldi S, Bianco I - BMC Blood Disord (2002)

Bottom Line: RESULTS: Two clinical variants of beta-thalassemia intermedia referred to as beta-thal int sub-silent and evident are associated with distinct sets of mutations of the beta-globin gene.A positive correlation was observed between the severity of the disease and the Hb F level, but no correlation was found between the Hb F and erythropoietin (Epo) level.No relation is found between Hb F synthesis and Epo secretion.

View Article: PubMed Central - HTML - PubMed

Affiliation: Associazione Nazionale per la lotta contro Ie Microcitemie in Italia, Rome, Italy. ibianco@tin.it

ABSTRACT
BACKGROUND: The thalassemic syndromes originate from mutations of the globin genes that cause, besides the characteristic clinical picture, also an increased Hb F amount. It is not yet clear if there are more factors, besides the beta globin genotype, determining the Hb F production. We have tried to find out if there are relations between total Hb and Hb F, between erythropoietin (Epo) and Hb F, between Hb F and point mutations of the gamma gene promoters. MATERIALS AND METHODS: Hematologic parameters, iron status, alpha/non-alpha globin ratio, Epo level, and thalassemic defects of the alpha-, beta-, and gamma-globin genes were explored using standard methods in patients affected by thalassemic diseases. Ninety-five non thalassemic individuals have been examined as controls. RESULTS: Two clinical variants of beta-thalassemia intermedia referred to as beta-thal int sub-silent and evident are associated with distinct sets of mutations of the beta-globin gene. Silent beta thal mutations are invariably associated with sub-silent beta thal int; beta degrees or severe beta+ thal mutations are associated with evident beta thal int (88%) and almost invariably (98%) with thalassemia major. A positive correlation was observed between the severity of the disease and the Hb F level, but no correlation was found between the Hb F and erythropoietin (Epo) level. The mutation Ggamma -158 C→T was detected in 26.9% of patients affected by beta-thal int sub-silent and evident, respectively, but only in 2% of patients with thalassemia major. CONCLUSIONS: The severity of beta-thal int and the increased Hb F level are strictly dependent from the type of beta-globin gene mutations. No relation is found between Hb F synthesis and Epo secretion. The mutation Ggamma -158 C→T, common among patients affected by beta-thal int and very rare in thal major patients, does not seem, in this study, to influence the Hb F content in beta thal int patients.

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Negative correlation between total Hb content and Epo level in iron-deficient patients. The logarithm of the Epo level plotted against the corresponding total Hb content of each patient is denoted by a blue square. The linear regression (solid line) fitting the data is described by the following equation: log [Epo] = 4.78–0.33 [Hb]. The correlation coefficient r is -0.74.
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Figure 1: Negative correlation between total Hb content and Epo level in iron-deficient patients. The logarithm of the Epo level plotted against the corresponding total Hb content of each patient is denoted by a blue square. The linear regression (solid line) fitting the data is described by the following equation: log [Epo] = 4.78–0.33 [Hb]. The correlation coefficient r is -0.74.

Mentions: In the 42 iron-deficient but not thalassemic subjects, the Epo level ranging from 2.7 to 1960 mU/1 with a mean value of 160.10 ± 312.60 mU/1, was negatively correlated (r = -0.74) to the Hb content (Fig. 1). The correlation is statistically significant (n = 42; p < 0.001).


Factors regulating Hb F synthesis in thalassemic diseases.

Mastropietro F, Modiano G, Cappabianca M, Foglietta E, D'Asero C, Mezzabotta M, Ponzini D, Maffei L, Amato A, Lerone M, Grisanti P, Di Biagio P, Rinaldi S, Bianco I - BMC Blood Disord (2002)

Negative correlation between total Hb content and Epo level in iron-deficient patients. The logarithm of the Epo level plotted against the corresponding total Hb content of each patient is denoted by a blue square. The linear regression (solid line) fitting the data is described by the following equation: log [Epo] = 4.78–0.33 [Hb]. The correlation coefficient r is -0.74.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC101377&req=5

Figure 1: Negative correlation between total Hb content and Epo level in iron-deficient patients. The logarithm of the Epo level plotted against the corresponding total Hb content of each patient is denoted by a blue square. The linear regression (solid line) fitting the data is described by the following equation: log [Epo] = 4.78–0.33 [Hb]. The correlation coefficient r is -0.74.
Mentions: In the 42 iron-deficient but not thalassemic subjects, the Epo level ranging from 2.7 to 1960 mU/1 with a mean value of 160.10 ± 312.60 mU/1, was negatively correlated (r = -0.74) to the Hb content (Fig. 1). The correlation is statistically significant (n = 42; p < 0.001).

Bottom Line: RESULTS: Two clinical variants of beta-thalassemia intermedia referred to as beta-thal int sub-silent and evident are associated with distinct sets of mutations of the beta-globin gene.A positive correlation was observed between the severity of the disease and the Hb F level, but no correlation was found between the Hb F and erythropoietin (Epo) level.No relation is found between Hb F synthesis and Epo secretion.

View Article: PubMed Central - HTML - PubMed

Affiliation: Associazione Nazionale per la lotta contro Ie Microcitemie in Italia, Rome, Italy. ibianco@tin.it

ABSTRACT
BACKGROUND: The thalassemic syndromes originate from mutations of the globin genes that cause, besides the characteristic clinical picture, also an increased Hb F amount. It is not yet clear if there are more factors, besides the beta globin genotype, determining the Hb F production. We have tried to find out if there are relations between total Hb and Hb F, between erythropoietin (Epo) and Hb F, between Hb F and point mutations of the gamma gene promoters. MATERIALS AND METHODS: Hematologic parameters, iron status, alpha/non-alpha globin ratio, Epo level, and thalassemic defects of the alpha-, beta-, and gamma-globin genes were explored using standard methods in patients affected by thalassemic diseases. Ninety-five non thalassemic individuals have been examined as controls. RESULTS: Two clinical variants of beta-thalassemia intermedia referred to as beta-thal int sub-silent and evident are associated with distinct sets of mutations of the beta-globin gene. Silent beta thal mutations are invariably associated with sub-silent beta thal int; beta degrees or severe beta+ thal mutations are associated with evident beta thal int (88%) and almost invariably (98%) with thalassemia major. A positive correlation was observed between the severity of the disease and the Hb F level, but no correlation was found between the Hb F and erythropoietin (Epo) level. The mutation Ggamma -158 C→T was detected in 26.9% of patients affected by beta-thal int sub-silent and evident, respectively, but only in 2% of patients with thalassemia major. CONCLUSIONS: The severity of beta-thal int and the increased Hb F level are strictly dependent from the type of beta-globin gene mutations. No relation is found between Hb F synthesis and Epo secretion. The mutation Ggamma -158 C→T, common among patients affected by beta-thal int and very rare in thal major patients, does not seem, in this study, to influence the Hb F content in beta thal int patients.

No MeSH data available.


Related in: MedlinePlus