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The paradox of hemoglobin SC disease.
Blood Rev. 2003 Sep; 17(3):167-78.BR

Abstract

Homozygous HbC gene results only in mild hemolytic anemia. In HbSC disease red cells contain equal levels of HbS and HbC. It is a paradox that HbSC exhibit a moderately severe phenotype in spite of being a mixture of HbS trait and HbC trait, neither of which has significant pathology. Why does the combination of these two Hbs result in a serious disease? The short answer is that HbC enhances, by dehydrating the SC red cell, the pathogenic properties of HbS, resulting in a clinically significant disorder, but somewhat milder that sickle cell anemia (SCA). Nevertheless, retinnitis proliferans, osteonecrosis, and acute chest syndrome have equal or higher incidence in HbSC disease compared to SCA. This pathogenic trick is accomplished by HbC inducing, by mechanisms not fully understood, an increase in the activity of K:Cl cotransport that induces the lost of K(+) and consequently of intracellular water. This event creates a sufficient increase of MCHC, so that the lower levels of HbS found in SC red cells can polymerize rapidly and effectively. This situation offers a unique opportunity: if we could inhibit the effect of HbC on K(+) transport we can cure the disease.

Authors+Show Affiliations

Division of Hematology, Department of Medicine, Albert Einstein College of Medicine and Montefiore Medical Center, The Bronx, NY, USA.No affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article
Review

Language

eng

PubMed ID

12818227

Citation

Nagel, Ronald L., et al. "The Paradox of Hemoglobin SC Disease." Blood Reviews, vol. 17, no. 3, 2003, pp. 167-78.
Nagel RL, Fabry ME, Steinberg MH. The paradox of hemoglobin SC disease. Blood Rev. 2003;17(3):167-78.
Nagel, R. L., Fabry, M. E., & Steinberg, M. H. (2003). The paradox of hemoglobin SC disease. Blood Reviews, 17(3), 167-78.
Nagel RL, Fabry ME, Steinberg MH. The Paradox of Hemoglobin SC Disease. Blood Rev. 2003;17(3):167-78. PubMed PMID: 12818227.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The paradox of hemoglobin SC disease. AU - Nagel,Ronald L, AU - Fabry,Mary E, AU - Steinberg,Martin H, PY - 2003/6/24/pubmed PY - 2004/3/17/medline PY - 2003/6/24/entrez SP - 167 EP - 78 JF - Blood reviews JO - Blood Rev VL - 17 IS - 3 N2 - Homozygous HbC gene results only in mild hemolytic anemia. In HbSC disease red cells contain equal levels of HbS and HbC. It is a paradox that HbSC exhibit a moderately severe phenotype in spite of being a mixture of HbS trait and HbC trait, neither of which has significant pathology. Why does the combination of these two Hbs result in a serious disease? The short answer is that HbC enhances, by dehydrating the SC red cell, the pathogenic properties of HbS, resulting in a clinically significant disorder, but somewhat milder that sickle cell anemia (SCA). Nevertheless, retinnitis proliferans, osteonecrosis, and acute chest syndrome have equal or higher incidence in HbSC disease compared to SCA. This pathogenic trick is accomplished by HbC inducing, by mechanisms not fully understood, an increase in the activity of K:Cl cotransport that induces the lost of K(+) and consequently of intracellular water. This event creates a sufficient increase of MCHC, so that the lower levels of HbS found in SC red cells can polymerize rapidly and effectively. This situation offers a unique opportunity: if we could inhibit the effect of HbC on K(+) transport we can cure the disease. SN - 0268-960X UR - https://www.unboundmedicine.com/medline/citation/12818227/The_paradox_of_hemoglobin_SC_disease_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0268960X03000031 DB - PRIME DP - Unbound Medicine ER -