Haemoglobin E Syndromes in a Ceylonese Family

Nagaratnam, Nages; Wickremasinghe, R. L.; Jayawickreme, U. S.; Maheson, V. S.

doi:10.1136/bmj.1.5075.866

Cited by 12 publications

(6 citation statements)

References 9 publications

(8 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Sri Lanka, a tropical island of approximately 19 million people, has a population comprised of Sinhalese (74%), Tamils (18%), Moors (7%) and several minor groups including a small number of the original island occupants, the Veddahs. Since 1951, there have been sporadic reports of the occurrence of thalassaemia and haemoglobin variants, including haemoglobin E, in most populations (de Silva & Weeratunge, 1951; Graff et al , 1954; Lehmann, 1956; Nagaratnam et al , 1958; de Silva et al , 1962; Nagaratnam & Sukumaran, 1967; Parameshwaran, 1967; Blackwell et al , 1974; Ellepola et al , 1980; Nagaratnam, 1989). In 1996, we began to assess the potential future health burden that thalassaemia might pose for Sri Lanka, and to attempt to better understand the natural history and clinical heterogeneity of haemoglobin E thalassaemia in this population.…”

Section: Prospective Studies Of Haemoglobin E Thalassaemia In Sri Lankamentioning

confidence: 99%

Studies in haemoglobin E beta‐thalassaemia

et al. 2008

View full text Add to dashboard Cite

SummaryHaemoglobin E b-thalassaemia is the commonest form of severe thalassaemia in many Asian countries, but little is known about its natural history, the reasons for its clinical diversity, or its optimal management. Despite its frequency, haemoglobin E b-thalassaemia is often managed in an illdefined and haphazard way, usually by demand transfusion. We studied a cohort of Sri Lankan patients with haemoglobin E b-thalassaemia over 5 years, and identified several genetic and environmental factors possibly contributing to the phenotypic diversity of the disorder. These included modifiers of haemoglobin F production, malaria and age-related changes in adaptation to anaemia. Our findings suggest that in many patients, haemoglobin E b-thalassaemia can be managed without transfusion, even with low haemoglobin levels. Agerelated changes in the pattern of adaptation to anaemia suggest that more cost-effective approaches to management should be explored.

show abstract

Section: Prospective Studies Of Haemoglobin E Thalassaemia In Sri Lankamentioning

confidence: 99%

Studies in haemoglobin E beta‐thalassaemia

et al. 2008

View full text Add to dashboard Cite

show abstract

“…Sri Lanka is a tropical island with a population of approximately 19 million, comprised of Sinhalese (74%), Tamils (18%), Moors (7%) and several minor groups, including a small number of the original island occupants, the Veddahs. Starting in 1951, there have been sporadic reports of the occurrence of thalassaemia and haemoglobin variants in the Sri Lankan population (de Silva & Weeratunge, 1951; Graff et al , 1954; Lehmann, 1956; Nagaratnam et al , 1958; de Silva et al , 1962; Nagaratnam & Sukumaran, 1967; Parameshwaran, 1967; Blackwell et al , 1974; Ellepola et al , 1980; Nagaratnam, 1989). Over recent years, increasing numbers of patients have attended hospitals in Sri Lanka with severe forms of thalassaemia, particularly in the Kurunegala District, and the disease is posing an increasingly important public health problem for the Island.…”

mentioning

confidence: 99%

The molecular basis for the thalassaemias in Sri Lanka

et al. 2003

View full text Add to dashboard Cite

Summary. The b-globin gene mutations and the a-globin genes of 620 patients with the phenotype of severe to moderate thalassaemia from seven centres in Sri Lanka were analysed. Twenty-four b-globin gene mutations were identified, three accounting for 84AE5% of the 1240 alleles studied: IVSI-5 (G fi C) 56AE2%; IVSI-1 (G fi A) 15AE2%; and haemoglobin E (codon (CD)26 GAG fi GAA) 13AE1%. Three new mutations were found; a 13-bp deletion removing the last nucleotide in CD6 to CD10 inclusively, IVSI-129 (A fi C) in the consensus splice site, and a frame shift, CD55 (-A). The allele frequency of a + thalassaemia was 6AE5% and 1AE1% for -a 3AE7 and -a 4AE2 deletions respectively. Non-deletion a-thalassaemia was not observed. Triplicate or quadruplicate a-globin genes were unusually common. In 1AE5% of cases it was impossible to identify b-thalassaemia alleles, but in Kurunegala detailed family studies led to an explanation for the severe thalassaemia phenotype in every case, including a previously unreported instance of homozygosity for a quadruplicated a-globin gene together with b-thalassaemia trait. These findings have implications for the control of thalassaemia in high-frequency populations with complex ethnic histories.

show abstract

“…Thalassaemia, however, is not uncommon [1][2][3]. Both ft-and «-thalassaemia are known to exist, while instances of interaction of thalassaemia with Hb E are also described [3,4], Multiple inherited erythrocytic abnormalities have been known to occur in fami lies. Cohen et al [5], Cunningham and Vella [6] and Swarup et al [7] described the occurrence of hereditary spherocytosis with thalassae mia.…”

mentioning

confidence: 99%

Hereditary Elliptocytosis Associated with Beta-Thalassaemia and a Variant of Rh (D)

Nagaratnam¹,

Siripala²,

Attapatu³

et al. 1971

Acta Haematol

Self Cite

View full text Add to dashboard Cite

A Sinhalese family with hereditary elliptocytosis is been described. Three of the members had thalassaemia trait and 2 had CD^ue chromosome. There was no abnormality due to the elliptocytosis nor to the presence of the thalassaemia trait. Both genes had not interacted. The osmotic fragility was markedly decreased in 2 members before and after incubation.Two members did not show any haptoglobin bands.

show abstract

Haemoglobin E Syndromes in a Ceylonese Family

Cited by 12 publications

References 9 publications

Studies in haemoglobin E beta‐thalassaemia

Studies in haemoglobin E beta‐thalassaemia

The molecular basis for the thalassaemias in Sri Lanka

Hereditary Elliptocytosis Associated with Beta-Thalassaemia and a Variant of Rh (D)

Contact Info

Product

Resources

About