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Mendeley readers
Attention Score in Context
| Title |
Combination of a triple alpha-globin gene with beta-thalassemia in a gypsy family: importance of the genetic testing in the diagnosis and search for a donor for bone marrow transplantation for one of their children
|
|---|---|
| Published in |
BMC Research Notes, April 2016
|
| DOI | 10.1186/s13104-016-2027-1 |
| Pubmed ID | |
| Authors |
Flor Yus Cebrian, María del Valle Recasens Flores, Silvia Izquierdo Álvarez, Ingrid Parra Salinas, Carmen Rodriguez-Vigil Iturrate |
| Abstract |
The simultaneous presence of a heterozygous β-thalassemia with α-gene triplication may cause anything from a thalassemia trait to thalassemia intermedia of mild to moderate severity. An 8-month-old ethnic Gypsy male infant with failure to thrive from birth, mild jaundice and splenomegaly. Clinical signs were compatible with severe microcytic anemia requiring bi-monthly blood transfusions. The β-thalassemia gene analysis found homozygous mutation IVS-I-110 (G>A) (c.93-21G>A) in intron 1 of the hemoglobin beta globin gene and a non-pathogenic sequence variant (single nucleotide polimorfism (SNP) Rs1609812). In addition, the patient had α gene triplication (ααα(anti 3.7)/αα) caused by double heterozygosity for a 3.7 kb fragment that contained only the hemoglobin alpha globin gene-2 gene. This finding led to screening and follow up in first-degree relatives, twin brothers and a sister and parents to provide them with appropriate genetic counseling. Nowadays, new horizons could open a new therapeutic management until definitive cure of these diseases through gene therapy or mutation-specific genome editing. Genetic testing can provide an early diagnosis and facilitates the search for a suitable donor for transplantation. |
Mendeley readers
The data shown below were compiled from readership statistics for 29 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 29 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 6 | 21% |
| Student > Master | 5 | 17% |
| Student > Bachelor | 4 | 14% |
| Student > Ph. D. Student | 3 | 10% |
| Other | 3 | 10% |
| Other | 3 | 10% |
| Unknown | 5 | 17% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 8 | 28% |
| Medicine and Dentistry | 6 | 21% |
| Nursing and Health Professions | 3 | 10% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 3% |
| Agricultural and Biological Sciences | 1 | 3% |
| Other | 4 | 14% |
| Unknown | 6 | 21% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 11 October 2022.
All research outputs
#7,729,343
of 23,506,079 outputs
Outputs from BMC Research Notes
#1,257
of 4,298 outputs
Outputs of similar age
#108,815
of 302,112 outputs
Outputs of similar age from BMC Research Notes
#28
of 100 outputs
Altmetric has tracked 23,506,079 research outputs across all sources so far. This one is in the 44th percentile – i.e., 44% of other outputs scored the same or lower than it.
So far Altmetric has tracked 4,298 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.7. This one has gotten more attention than average, scoring higher than 65% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 302,112 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 55% of its contemporaries.
We're also able to compare this research output to 100 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 66% of its contemporaries.