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At least 127 records · Page 7Linked to original sources
PubMed1984

[Behavior of blood folate in children with thalassemia major under transfusion therapy and in thalassemia trait].

The folic acid plasma level in 12 out of 13 children with thalassemia major was lower than 3 ng/ml. This deficiency is not due to intestinal malabsorption. Folate deficiency should then be provoked by an increased allowance due to the compensatory erythropoiesis and to the lack of. Folic acid level less then 3 ng/ml in 24% and not more then 6 ng/ml in 50% of thalassemic heterozygotic children has been found. Therefore the necessity of folic acid treatment in thalassemic children with a low blood transfusional therapy and in beta-thalassemic heterozygotic children has been recommended.

Blood Transfusion↗
PubMed1984

The rare alpha-thalassemia-1 of blacks is a zeta alpha-thalassemia-1 associated with deletion of all alpha- and zeta-globin genes.

Restriction endonuclease mapping with alpha and zeta-globin gene probes showed differences between the alpha-thalassemia-1 (alpha-thal-1) condition in two patients with HbH disease. One patient had the rare black type of alpha-thal-1 together with alpha-thal-2 and HbS heterozygosities. The second patient was a Laotian child with HbE, Hb Constant Spring (alpha-thal-2), and alpha-thal-1 heterozygosities. The diagnoses were based on clinical, hematologic, and biochemical data. Whereas DNA fragments hybridizing to a zeta-probe were obtained from the Laotian type of alpha-thal-1, neither alpha nor zeta-gene fragments could be identified deriving from the black type of alpha-thal-1. Therefore, the black type of alpha-thal-1 is associated with a deletion of the entire zeta 2-psi zeta-psi alpha-alpha 2-alpha 1 gene complex and can be considered a zeta alpha-thal-1. It is likely that homozygosity for such a condition will lead to embryonic wastage, explaining the absence of hydrops fetalis in blacks.

Black People↗
PubMed1997

Phlebotomy to reduce iron overload in patients cured of thalassemia by bone marrow transplantation. Italian Cooperative Group for Phlebotomy Treatment of Transplanted Thalassemia Patients.

In thalassemia after successful bone marrow transplantation (BMT), iron overload remains an important cause of morbidity. After BMT, patients have normal erythropoiesis capable of producing a hyperplastic response to phlebotomy so that this procedure can be contemplated as a method of mobilizing iron from overloaded tissues. A phlebotomy program (6 mL/kg blood withdrawal at 14-day intervals) was proposed to 48 patients with prolonged follow-up (range, 2 to 7 years) after BMT. Seven patients were not submitted to the program (five because of refusal and two because of reversible side effects). The remaining 41 patients (mean age, 16 +/- 2.9 years) were treated for a mean period of 35 +/- 18 months. All were evaluated before and after 3 +/- 0.6 years of follow-up. Values are expressed as mean +/- standard deviation (SD) or as median with a range (25 to 75 percentile). Serum ferritin decreased from 2,587 (2,129 to 4,817) to 417 (210 to 982) microg/L (P < .0001), total transferrin increased from 2.34 +/- 0.37 to 2.7 +/- 0.58 g/L (P = .0001), transferrin saturation decreased from 90% +/- 14% to 50% +/- 29% (P < .0001). Liver iron concentration evaluated on liver biopsy specimens decreased from 20.8 (15.5 to 28.1) to 4.2 (1.6 to 14.6) mg/g dry weight (P < .0001). Aspartate transaminase decreased from 2.7 +/- 2 to 1.1 +/- 0.6 (P < .0001) and alanine transaminase from 5.2 +/- 3.4 to 1.7 +/- 1.2 (P < .0001) times the upper level of normality. The Knodell score for liver histological activity decreased from 6.9 +/- 3 to 4.9 +/- 2.8 (P < .0001). These data indicate that phlebotomy is safe, efficient, and widely applicable to ex-thalassemics after BMT.

Adolescent↗
PubMed1998

[Beta(+)-thalassemia (-31CapA-->G) homozygosity discovered on the mass medical examination: diagnosis for beta-thalassemia and DNA analysis].

A 44-year-old Japanese male showed a high value of HbF (14.3%) in an assay of glycated Hb (HbA1c) by use of HLC-723GHb II system. The proband was asymptomatic although he was found to be anemic ten years ago. The hematological examination revealed microcytosis, hypochromia and slight reticulocytosis (3.7%). Serum iron level was high (245 g/dl). Blood smear revealed aniso-poikilocytosis with scattered target cells. Hb analysis showed a remarkable increase of HbA2 (8.6%) as well as the high HbF cited above, but no abnormal Hb was detected. The beta/alpha ratio of globin biosynthesis in reticulocytes was decreased to 0.25. DNA sequencing of the beta-globin gene disclosed that the proband was homozygous for beta (+)-thalassemia mutation-31CapA-->G. This mutation was linked to A gamma T gene and haplotype -(-)+2(-)+2-. His parents and two daughters were heterozygous for the mutation. They were anemic and had increased HbA2 levels of 4.36-5.43%. The beta/alpha ratios of globin biosynthesis were 0.61-0.81.

Adult↗