Cooley's Syndrome (Erythroblastic Anemia) in a Chinese Child

Foster, L. Paul

doi:10.1001/archpedi.1940.01990150146009

Cited by 10 publications

(2 citation statements)

References 6 publications

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“…There are case reports of the occurrence of the disease in other Orientals which raise the possibility that in the East the high frequency may not be restricted to Thailand (e.g. Foster, 1940;Greenblatt, Cohn & Deutsch, 1946;Scott, 1947;Gardner, 1947;Eng & Tjay, 1955). Caucasian groups that may have a relatively high frequency of the thalassemia gene are Kurdistan Jews (Matoth, Shamir & Freundlich, 1955) and Indians (Das Gupta, Chatterjea & Ray, 1954).…”

Section: E the Distribution Of The Genes Responsible For The Abnormamentioning

confidence: 99%

THE GENETICS OF HUMAN HAEMOGLOBIN DIFFERENCES: PROBLEMS and PERSPECTIVES*

Neel

1956

Annals of Human Genetics

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From time to time in the history of genetics there appear upon the scene problems which, once clearly defined, become a focus of interest not for genetics alone, but for many disciplines. Two examples in relatively recent times are the discovery of genetic recombination in bacteria and viruses, and the discovery of the Rh blood types. Bacterial recombination almost at once became of concern to the epidemiologist, the serologist, and the taxonomically inclined bacteriologist, as well as the geneticist. Likewise, the significance of the discovery of the Rh blood groups was at once apparent to the clinician, the serologist, and the anthropologist, in addition to the geneticist. The subject of our present article, the abnormal haemoglobins, would appear to be another of these problems which lie at the cross-roads of several disciplines, in this case biochemistry, clinical medicine, anthropology, and, of course, genetics. In contrast to the other problems referred to above, however, the developments in regard to the abnormal haemoglobins are so recent that our perspective at present is at best blurred. By tradition the Galton Lecture has been devoted to a definitive type of presentation. The time is not yet come for that type of presentation in the field under discussion in this paper. Accordingly, in addition to a brief summarization of some of the apparently established facts, I will emphasize some of the unsolved issues in this area, and the present state of our information concerning these issues. At the very outset, I would like to acknowledge the extent to which my own work and thinking in this field has profited from my associations with Dr

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Section: E the Distribution Of The Genes Responsible For The Abnormamentioning

confidence: 99%

THE GENETICS OF HUMAN HAEMOGLOBIN DIFFERENCES: PROBLEMS and PERSPECTIVES*

Neel

1956

Annals of Human Genetics

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“…Thalassemia was first described by [1] when he observed the disorder in patients of Mediterranean ancestry, and called Cooley's anemia, In 1936 Whipple and Bradford in describing the pathological changes of the condition for the first time coined the name thalassemia, which means "sea in the blood "which is a reference to the fact that thalassemia is prevalent in the Mediterranean Sea area [2]. Thalassemia was historically found in warmer areas of the world and became prevalent in those areas because they coincide with the areas where malaria is also prevalent, and thalassemia provides some protection against malaria, resulting in more thalassemia's carriers surviving malaria epidemics than non-thalassemia's, thereby inflating the percentage of those populations carrying the thalassemia genes [1,3]. The genetic defect involved in beta thalassemia is usually a missense or nonsense mutation in the beta-globin gene, although occasional defects due to gene deletions of the beta-globin gene and surrounding regions have also been reported.…”

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confidence: 99%

Identification and Molecular Characterization of the Most Common Types of Beta Thalassemia Mutations in Sudanese Patients

Jagtap

Elshaikh

Hussein

2019

AJBSR

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Thalassemia is a Mendelian autosomal recessive heritable blood disorder it's a group of genetically determined microcytic, hypochromic anemia's resulting from decrease in synthesis of one or more globin chains in the hemoglobin molecule. The most common types are alpha and beta thalassemia according to which globin chain is reduced. Thalassemia was first described by [1] when he observed the disorder in patients of Mediterranean ancestry, and called Cooley's anemia, In 1936 Whipple and Bradford in describing the pathological changes of the condition for the first time coined the name thalassemia, which means "sea in the blood "which is a reference to the fact that thalassemia is prevalent in the Mediterranean Sea area [2]. Thalassemia was historically found in warmer areas of the world and became prevalent in those areas because they coincide with the areas where malaria is also prevalent, and thalassemia provides some protection against malaria, resulting in more thalassemia's carriers surviving malaria epidemics than non-thalassemia's, thereby inflating the percentage of those populations carrying the thalassemia genes [1,3]. The genetic defect involved in beta thalassemia is usually a missense or nonsense mutation in the beta-globin gene, although occasional defects due to gene deletions of the beta-globin gene and surrounding regions have also been reported. The severity of the damage depends on the nature of the mutation. Mutations in the HBB gene cause beta thalassemia. The HBB gene provides instructions for making a protein called betaglobin. Beta-globin is a component (subunit) of hemoglobin. Beta thalassemia mutations are characterized according to the extent of defect information of beta-globin chains, some mutations in the

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Detection of Mild Types of Mediterranean (Cooley's) Anemia

Smith¹

1948

Arch Pediatr Adolesc Med

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Cooley's Syndrome (Erythroblastic Anemia) in a Chinese Child

Cited by 10 publications

References 6 publications

THE GENETICS OF HUMAN HAEMOGLOBIN DIFFERENCES: PROBLEMS and PERSPECTIVES*

THE GENETICS OF HUMAN HAEMOGLOBIN DIFFERENCES: PROBLEMS and PERSPECTIVES*

Identification and Molecular Characterization of the Most Common Types of Beta Thalassemia Mutations in Sudanese Patients

Detection of Mild Types of Mediterranean (Cooley's) Anemia

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