scholarly journals The Hemoglobin E Syndromes. II. Sickle-Cell—Hemoglobin E Disease

Blood ◽  
1960 ◽  
Vol 15 (5) ◽  
pp. 610-613 ◽  
Author(s):  
MUZAFFER AKSOY
Keyword(s):  
Sickle Cell ◽  
Genetic Data ◽  
Genetic Studies ◽  
Hemoglobin E ◽  
New Family ◽  
Clinical Changes ◽  
Hemoglobin E Disease

Abstract 1. A clinical and hematologic description is presented of a patient with sickle-cell-hemoglobin E disease in a new family. In contrast to the mild hematologic and clinical changes observed in the patients described by the author previously, the clinical and hematologic manifestations in the new patient were moderate in degree. The anemia was normocytic in type. Variation in the clinical and hematologic picture of sickle cell-hemoglobin E disease has been noted. 2. Genetic studies of two families with sickle-cell-hemoglobin E disease have been presented. According to the genetic data obtained by evaluation of the genealogies of these two families, it is strongly suggested that the genes responsible for hemoglobins S, E and A are allelomorphs or linked.

scholarly journals Genetic Aspects of Sickle Cell Anemia and Microdrepanocytic Disease

Blood ◽  
1952 ◽  
Vol 7 (4) ◽  
pp. 429-435 ◽  
Author(s):  
E. SILVESTRONI ◽  
I. BIANCO
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Sickle Cell Trait ◽  
Genetic Data ◽  
The Other ◽  
Moderate Degree ◽  
Simultaneous Presence ◽  
Genetic Studies ◽  
Asymptomatic Individuals ◽  
Degree Of Severity

Abstract 1. A brief review is presented of the genetic theories of sickle cell anemia and the sickle cell trait. 2. The genetic data on 2 families of asymptomatic individuals with the sickle cell trait and of 3 families of patients with sickle cell anemia are reported. These data confirm the heterozygous-homozygous theory of Neel. 3. The possibility is considered that many of the cases of sickle cell anemia described in the white race are actually examples of "microdrepanocytic disease." 4. Microdrepanocytic disease is a new syndrome, first described by the authors from Italy. It has some of the characteristics of both sickle cell anemia and Mediterranean anemia. On the basis of studies in 11 families, the presence of the sickle cell trait in one parent and of microcythemia (Mediterranean anemia trait) in the other, results in microdrepanocytic disease in some of the offspring. Hematologic studies in these patients indicate the simultaneous presence of both sickle cell and microcythemic genes. 5. Genetic studies of these families suggests that the genes for microcythemia and for sicklemia are located on different chromosomes and are inherited independently of each other. On the other hand, their simultaneous presence leads to a disease of a moderate degree of severity having many of the features of sickle cell anemia.

scholarly journals The Hemoglobin E Syndromes. I. Hemoglobin E in Eti-Turks

Blood ◽  
1960 ◽  
Vol 15 (5) ◽  
pp. 606-609 ◽  
Author(s):  
MUZAFFER AKSOY ◽  
Kamil Tanrikulu
Keyword(s):  
Sickle Cell ◽  
Electrophoretic Study ◽  
Hemoglobin E ◽  
Hemoglobin E Disease

Abstract During an electrophoretic study of the hemoglobin from 150 persons belonging to the Eti-Turk community, two individuals with hemoglobin E trait and one case of sickle-cell-hemoglobin E disease were discovered. The results of this investigation combined with those of other electrophoretic studies performed previously in this community indicate that the incidence of hemoglobin E among Eti-Turks is 1.37 per cent. The importance of the occurrence of hemoglobin E in this community has been discussed, and a possible relationship between Eti-Turks and some people of India has been postulated.

Sickle cell-hemoglobin E disease: Clinical findings and implications

1991 ◽  
Vol 119 (6) ◽  
pp. 949-951 ◽  
Author(s):  
Kathy S. Rey ◽  
Carol A. Unger ◽  
Sreedhar P. Rao ◽  
Scott T. Miller
Keyword(s):  
Sickle Cell ◽  
Clinical Findings ◽  
Hemoglobin E ◽  
Hemoglobin E Disease

scholarly journals New Data on Microdrepanocytic Disease

Blood ◽  
1955 ◽  
Vol 10 (6) ◽  
pp. 623-632 ◽  
Author(s):  
E. SILVESTRONI ◽  
I. BIANCO
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Sickle Cell Trait ◽  
Hypochromic Anemia ◽  
Genetic Data ◽  
Clinical History ◽  
Adult Patients ◽  
Simultaneous Presence ◽  
Genetic Studies ◽  
History Of

Abstract 1. Geographic, clinical and genetic data of 35 new cases of microdrepanocytic disease are presented. 2. These data suggest that sickle cell trait and microdrepanocytic disease are not infrequent in the eastern district of Sicily, perhaps with some small foci of sicklemic subjects. 3. The clinical history of adult patients and the personal examination of some cases of microdrepanocytic disease in children show the existence of mild forms of the disease and of forms appearing late in life. 4. From the clinical viewpoint, this series shows several interesting findings in the patients with microdrepanocytic disease: painful osteoarticular crises are inconstantly present; splenomegaly may undergo a spontaneous lessening during the course of the disease, analogous to that which occurs in sickle cell anemia; in women with microdrepanocytic disease miscarriages are frequent and successful pregnancies and births are extremely rare. 5. Hematologic studies reveal hypochromic anemia, leukocytosis, nucleated erythrocytes in the circulating blood, marked abnormalities in the morphology of the erythrocytes, and decreased cell fragility to hypotonic saline. 6. Genetic studies of the new cases again show the simultaneous presence in the patients with microdrepanocytic disease of the genes responsible for microcythemia and sickle cell trait.

scholarly journals Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure

2009 ◽  
Vol 161 (1) ◽  
pp. 179-187 ◽  
Author(s):  
Anne Bachelot ◽  
Agnès Rouxel ◽  
Nathalie Massin ◽  
Jérome Dulon ◽  
Carine Courtillot ◽  
...  
Keyword(s):  
Premature Ovarian Failure ◽  
Chromosomal Abnormalities ◽  
Phenotypic Variability ◽  
Genetic Data ◽  
Ovarian Failure ◽  
Mineral Density ◽  
Genetic Studies ◽  
Autoimmune Polyendocrine Syndrome ◽  
Design And Methods

ObjectivePremature ovarian failure (POF) encompasses a heterogeneous spectrum of conditions, with phenotypic variability among patients. The etiology of POF remains unknown in most cases. We performed a global phenotyping of POF women with the aim of better orienting attempts at an etiological diagnosis.Design and methodsWe performed a mixed retrospective and prospective study of clinical, biological, histological, morphological, and genetic data relating to 357 consecutive POF patients between 1997 and 2008. The study was conducted at a reproductive endocrinology referral center.ResultsSeventy-six percent of the patients presented with normal puberty and secondary amenorrhea. Family history was present in 14% of the patients, clinical and/or biological autoimmunity in 14.3%. Fifty-six women had a fluctuating form of POF. The presence of follicles was suggested at ultrasonography in 50% of the patients, and observed in 29% at histology; the negative predictive value of the presence of follicles at ultrasonography was 77%. Bone mineral density alterations were found in 58% of the women. Eight patients had X chromosomal abnormalities other than Turner's syndrome, eight other patients evidenced FMR1 pre-mutation. Two other patients had autoimmune polyendocrine syndrome type 2 and 1.ConclusionA genetic cause of POF was identified in 25 patients, i.e. 7% of the whole cohort. POF etiology remains most often undiscovered. Novel strategies of POF phenotyping are in such content mandatory to improve the rate of POF patients for whom etiology is identified.

Genetic Studies in a Black Family with Autosomal Dominant Polycystic Kidney Disease and Sickle-Cell Trait

Nephron ◽  
1996 ◽  
Vol 72 (4) ◽  
pp. 595-598 ◽  
Author(s):  
William J. Kimberling ◽  
Jackson Joe Yium ◽  
Ann M. Johnson ◽  
Patricia A. Gabow ◽  
Manuel Martinez-Maldonado
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Sickle Cell ◽  
Autosomal Dominant ◽  
Black Family ◽  
Sickle Cell Trait ◽  
Polycystic Kidney ◽  
Genetic Studies ◽  
Autosomal Dominant Polycystic Kidney

scholarly journals IS HEMOGLOBIN E GENE WIDELY SPREAD IN THE STATE OF MADHYA PRADESH IN CENTRAL INDIA? EVIDENCE FROM FIVE TYPICAL FAMILIES

2014 ◽  
Vol 6 (1) ◽  
pp. e2014060 ◽  
Author(s):  
R S Balgir
Keyword(s):  
Sickle Cell ◽  
Clinical Manifestations ◽  
Central India ◽  
Madhya Pradesh ◽  
Red Cell ◽  
Hemoglobin E ◽  
Vulnerable People ◽  
Hb E ◽  
Double Heterozygosity ◽  
First Time

Background: Red cell inherited hemoglobin anomalies are commonly encountered in the central region of India. These cause a public health concern due to high degree of morbidity, mortality, and fetal loss in the backward, underprivileged, and vulnerable people. Purpose: To report five typical families of hemoglobin E disorders identified for the first time in the state of Madhya Pradesh from central India. Methods: Out of a total of 445 couples/families (excluding the present study) with 1526 persons (848 males and 678 females) referred from a tertiary hospital in central India for investigations of anemia/hemoglobinopathies during the period from March 2010 to February 2014, we came across five typical rare couples/families of hemoglobin E disorders worthy of detailed investigations. Laboratory investigations were carried out following the standard procedures after cross checking for quality control from time to time. Results: For the first time, we have encountered nine cases of heterozygous hemoglobin E trait, two members with hemoglobin E-β-thalassemia (double heterozygosity), two cases of sickle cell-hemoglobin E disease (double heterozygosity), and none with homozygous hemoglobin E. Cases  of hemoglobin E trait, hemoglobin E-β-thalassemia, sickle cell-β-thalassemia and sickle cell-E disease showed moderate to severe anemia, and target cells, and reduced values of red cell indices like RBC, Hb level, HCT, MCV, MCH and MCHC, representing abnormal hematological profile and clinical manifestations before blood transfusion. Conclusions: Double heterozygosity for hemoglobinopathies such as occurrence of β-thalassemia mutation with structurally abnormal hemoglobins (Hb S and Hb E) is a rare entity, but occurs with severe clinical manifestations only in those areas or communities where these are highly prevalent, testifying the migrations and genetic admixture. Distribution of hemoglobin E and β-thalassemia in different districts of Madhya Pradesh indicates that abnormal Hb E gene has wide spread and needs prevention for the rehabilitation of vulnerable people in central India. 

Subspecies definitions and legislation: from eastern wallaroo (Osphranter robustus robustus) to euro (Osphranter robustus erubescens)

2019 ◽  
Vol 41 (1) ◽  
pp. 65 ◽  
Author(s):  
Barry J. Richardson
Keyword(s):  
Species Concept ◽  
Genetic Data ◽  
Ecological Approach ◽  
Phylogenetic Species ◽  
Management Decisions ◽  
Evolutionary Trajectory ◽  
Genetic Studies ◽  
Phylogenetic Species Concept ◽  
Population Structuring ◽  
Traditional Approaches

As a consequence of genetic studies of population structuring, the usefulness of subspecies has been questioned, with opinions divided. The situation is further confused by the use of varying species and subspecies concepts. Most alternatives require each taxon to be following an independent evolutionary trajectory. These include traditional approaches and the more recent phylogenetic species concept. The latter has led to large increases in the apparent number of taxa in some groups, though strong objections have been raised to this approach. An alternative, the ecological species concept, has been opposed by phylogeneticists. These two approaches are compared using morphological and genetic data from common wallaroo (Osphranter robustus) populations. The different taxonomies that might result (many species, one species with two subspecies, one species with no subspecies) can have significant consequences for legislative and management decisions. The ecological approach is considered preferable for subspecies and the present taxonomy is maintained. A potential location of the boundary between the wallaroo subspecies is proposed. How the use of the different subspecies definitions would affect legislative decisions is explored.

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