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Related Concept Videos

Translation01:31

Translation

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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
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Lethal Alleles02:41

Lethal Alleles

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Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
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Multiple Allele Traits01:49

Multiple Allele Traits

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The Concept of Multiple Allelism
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Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Incomplete Dominance01:43

Incomplete Dominance

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Disorders of Erythrocytes01:27

Disorders of Erythrocytes

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Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
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On the other...
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Related Experiment Video

Updated: Oct 21, 2025

Efficient Purification and LC-MS/MS-based Assay Development for Ten-Eleven Translocation-2 5-Methylcytosine Dioxygenase
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Efficient Purification and LC-MS/MS-based Assay Development for Ten-Eleven Translocation-2 5-Methylcytosine Dioxygenase

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[Thalassemia in Japan].

Hideho Wada1

  • 1Department of Hematology, Kawasaki Medical School.

[Rinsho Ketsueki] the Japanese Journal of Clinical Hematology
|September 9, 2021
PubMed
Summary

Thalassemia, a hemoglobin disorder, involves globin chain imbalances. Genetic analysis reveals distinct mutation patterns in alpha- and beta-thalassemia, with new treatments like luspatercept showing promise for transfusion-dependent cases.

Area of Science:

  • Hematology
  • Genetics
  • Molecular Biology

Background:

  • Thalassemia results from imbalanced globin chain production, affecting hemoglobin synthesis.
  • It is classified into alpha- and beta-thalassemia, presenting with microcytosis and polycythemia.
  • The Mentzer index (≤13) is a diagnostic aid.

Purpose of the Study:

  • To analyze genetic variations in alpha- and beta-thalassemia.
  • To investigate the efficacy of luspatercept in treating transfusion-dependent beta-thalassemia.

Main Methods:

  • Genetic analysis of alpha- and beta-thalassemia subtypes.
  • Clinical trial evaluation of luspatercept for transfusion-dependent beta-thalassemia.

Main Results:

Keywords:
Hemolytic anemiaLuspaterceptThalassemiaα-thalassemia in myelodysplastic syndrome

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  • The Southeast Asian type of alpha-thalassemia is common in both Japanese and non-Japanese populations.
  • Beta-thalassemia mutations differ between Japanese and foreign individuals in Japan, including Japanese-specific mutations like -31 A→G.
  • Acquired alpha-thalassemia, including alpha-thalassemia myelodysplastic syndrome, is rare.
  • Luspatercept significantly reduced transfusion volume in transfusion-dependent beta-thalassemia patients.

    • Conclusions:

    • Genetic profiles of thalassemia vary geographically and ethnically.
    • Novel therapies like luspatercept offer a potential breakthrough for managing transfusion-dependent beta-thalassemia.