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hemoglobin Heraklion

deletion of CCC between codons 36 and 37; results in loss of a proline residue

Also Known As:

Hb Heraklion

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Amino Acids, Peptides, and Proteins: 1
- Proteins: 484843
  - Blood Proteins: 12459
    - Hemoglobins: 37188
      - Abnormal Hemoglobins: 120
        hemoglobin Heraklion: 2
  - Hemeproteins: 194
    - Globins: 2716
      - Hemoglobins: 37188
        Abnormal Hemoglobins: 120
        hemoglobin Heraklion: 2

Experts

1.	Douna, Varvara: 1 article (01/2008)
2.	Kampourakis, Dimitrios: 1 article (01/2008)
3.	Kanavakis, Emmanuel: 1 article (01/2008)
4.	Liapi, Dimitra: 1 article (01/2008)
5.	Metaxotou-Mavrommati, Anna: 1 article (01/2008)
6.	Papassotiriou, Ioannis: 1 article (01/2008)
7.	Stamoulakatou, Alexandra: 1 article (01/2008)
8.	Traeger-Synodinos, Joanne: 1 article (01/2008)
9.	Tsilimigaki, Amalia: 1 article (01/2008)
10.	Kanavakis, E: 1 article (08/2000)

Related Diseases

1.	alpha-Thalassemia 01/01/2008 - "In all four cases (two unrelated children and two siblings), DNA analysis identified common alpha(+)-thalassemia (alpha(+)-thal) mutations in trans to the in frame 3 bp deletion (-CCC) on the alpha1-globin gene between codons 36 and 37, which has previously been reported as Hb Heraklion in a single Greek case. " 01/01/2008 - "Further identification of the hyperunstable alpha-globin chain variant Hb Heraklion [codons 36/37 (-CCC); Pro-->0 (alpha1)] in Greek cases with co-inherited alpha+-thalassemia mutations." 08/01/2000 - "In a child with clinical and hematological features consistent with beta-thalassemia intermedia, DNA analysis excluded any beta-globin gene mutations but characterized a novel deletion cd37(C2)Pro>0 (Hb Heraklion) in the alpha1 globin gene, in trans to a common Mediterranean nondeletion alpha-thalassemia mutation (alpha(Hph)alpha). "
2.	beta-Thalassemia (Cooley's Anemia) 08/01/2000 - "In a child with clinical and hematological features consistent with beta-thalassemia intermedia, DNA analysis excluded any beta-globin gene mutations but characterized a novel deletion cd37(C2)Pro>0 (Hb Heraklion) in the alpha1 globin gene, in trans to a common Mediterranean nondeletion alpha-thalassemia mutation (alpha(Hph)alpha). "
3.	Hemoglobinopathies 08/01/2000 - "Distinct phenotypic expression associated with a new hyperunstable alpha globin variant (Hb heraklion, alpha1cd37(C2)Pro>0): comparison to other alpha-thalassemic hemoglobinopathies."

Related Drugs and Biologics

1.	alpha-Globins
2.	DNA (Deoxyribonucleic Acid)
3.	beta-Globins (beta Globin)
4.	Globins
5.	Codon (Codons)