&lt;i&gt;α&lt;/i&gt;-Thalassaemia in Cuba

Martínez, G.; Colombo, Bruno

doi:10.1159/000207995

Cited by 6 publications

(2 citation statements)

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“…Hb Bart's has also been found in blood from Black newborns (5, 7 ,8, 9 ,10 and others) and in ne,,1borns from various other racial and/or ethnic origins such as Saudia Arabia (22), Cuba (19), Malaya (18) (see also Table I of ref. 5).…”

Section: Speculationmentioning

confidence: 90%

Hemoglobin α Chain Deficiency in Black Children with Variable Quantities of Hemoglobin Bart's at Birth

et al. 1977

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SummaryHematologic and globin chain synthesis studies have been made in 21 children, aged 2 to 6 years, many of their parents, and several normal adults and a-thalassemia heterozygotes. At birth, 11 children had about 5% hemoglobin (Hb) Bart's, 5 had about 2% Hb Bart's, and 5 had no trace of Hb Bart's. A significant decrease in mean corpuscular volume. (MCV) and mean corpuscular hemoglobin (MCH) values and an increase in the @/a ratio was observed in the first group; microcytosis and hypochromia were absent in the children of the second group although the @/a ratio was significantly increased. The a chain deficiency is familial. Increased a/a ratios were present in many parents although only two parents of children with 5% Hb Bart's at birth had hematologic findings suggestive of the presence of the same type of defect as observed in the children with the larger amount of Hb Bart's at birth. SpeculationIt is postulated that the absence or presence of duplicated Hb, structural genes is the underlying mechanism for the variable a chain deficiency in black infants. Children with about 5% Hb Bart's at birth have the genotype -a/-a or, rarely, the --/aa genotype; when only two Hb, structural loci instead of four are active, a modest deficiency in a chain production will be the result. The presence of the -a/aa genotype could be predicted from the smaH amounts of Hb Bart's at birth and from data of the hemoglobin synthesis analyses in older children and adults; the -a/a genotype however, is also suggested from data obtained by MCH and MCV determinations. It is concluded that although the -a/a genotype always produces Hb Bart's at birth in moderate amounts, the -a/aa genotype may or may not. The rarity of the --/aa genotype in this population is responsible for the absence of the Hb Bart's hydrops fetalis syndrome.

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Section: Speculationmentioning

confidence: 90%

Hemoglobin α Chain Deficiency in Black Children with Variable Quantities of Hemoglobin Bart's at Birth

et al. 1977

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“…c~-Thalassemia is a hereditary hemoglobin disorder commonly found in oriental populations [12,13], but also frequently observed in Africans [1,3,5] as well as people of Mediterranean origin [4,7,9].…”

Section: Methodsmentioning

confidence: 99%

The unreliability of mean corpuscular volume and mean cellular hemoglobin determinations in the diagnosis of ?-thalassemia in newborn infants

Meloni

Solinas

et al. 1980

Eur J Pediatr

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Mean corpuscular volume (MCV) and mean cellular hemoglobin (MCH) were determined by means of a Hemalog 8/90 electronic counter in 51 full-term newborn infants with alpha-thalassemia-2 and 15 with alpha-thalassemia-1, as well as in 150 normal newborn infants. The mean MCV and MCH values were 92 fl +/- 06 and 33.26 pg +/- 2.22 in the normal newborn infants, 82 fl +/- 07 and 29.40 pg +/- 2.60 in the alpha-thalassemia-2 subjects, and 73 fl +/- 06 and 26.7 +/- 2.05 in the alpha-thalassemia-1 subjects. Four of the 150 normal newborn infants had MCV's < 79 fl and MCH's < 29.00 pg whereas 5 of the alpha-thalassemic subjects had MCV's > 90 fl and MCH's > 32.00 pg. We conclude that MCV and MCH determinations are unreliable in the diagnosis of alpha-thalassemia in the neonatal period.

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2001

The Thalassaemia Syndromes

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<i>α</i>-Thalassaemia in Cuba

Cited by 6 publications

References 6 publications

Hemoglobin α Chain Deficiency in Black Children with Variable Quantities of Hemoglobin Bart's at Birth

Hemoglobin α Chain Deficiency in Black Children with Variable Quantities of Hemoglobin Bart's at Birth

The unreliability of mean corpuscular volume and mean cellular hemoglobin determinations in the diagnosis of ?-thalassemia in newborn infants

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