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HEMOGLOBIN EVANSTON

MedGen UID:
924767
•Concept ID:
C4284348
•
Finding
OMIM®: 141800

Recent clinical studies

Diagnosis

De-novo ATR-16 syndrome associated with inherited hemoglobin Evanston causing HbH phenotype: a rare occurrence.
Jajodia E, Menghani H, Arora N, Jitani A
Ann Hematol 2024 Sep;103(9):3805-3810. Epub 2024 Jul 11 doi: 10.1007/s00277-024-05876-9. PMID: 38990295

Prognosis

Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia.
Honig GR, Shamsuddin M, Vida LN, Mompoint M, Valcourt E, Bowie LJ, Jones EC, Powers PA, Spritz RA, Guis M
J Clin Invest 1984 Jun;73(6):1740-9. doi: 10.1172/JCI111382. PMID: 6725558Free PMC Article

Clinical prediction guides

A new Hb evanston allele [alpha14(A12)Trp --> Arg] found solely, and in the presence of common alpha-thalassemia deletions, in three independent Asian cases.
Harteveld CL, Wijermans PW, de Ree JE, Ter Hal P, Van Delft P, Van Rooijen-Nijdam IH, Rasp E, Kok PJ, Souverijn JH, Versteegh FG, Giordano PC
Hemoglobin 2004 Feb;28(1):1-5. doi: 10.1081/hem-120028881. PMID: 15008259
Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia.
Honig GR, Shamsuddin M, Vida LN, Mompoint M, Valcourt E, Bowie LJ, Jones EC, Powers PA, Spritz RA, Guis M
J Clin Invest 1984 Jun;73(6):1740-9. doi: 10.1172/JCI111382. PMID: 6725558Free PMC Article

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