Premium
Diagnostic value of zinc protoporphyrin in a screening strategy for α ‐thalassemia
Author(s) -
Sardón Estévez Nadia,
Herruer Martinus H.,
Jansen Ruud,
Bergkamp Ferry J. M.,
Gorgels Jozef P. M. C.
Publication year - 2009
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.2009.01227.x
Subject(s) - thalassemia , protoporphyrin , zinc protoporphyrin , medicine , value (mathematics) , chemistry , computer science , biochemistry , heme , porphyrin , enzyme , machine learning
The definitive diagnosis of α‐thalassemia involves detection of a deletion of one or more α‐globin that encode the α‐chains of Hb (hemoglobin). To determine whether DNA analysis is indicated, screening tests such as mean corpuscular volume (MCV) and Hb typing are employed. α‐Thalassemia often correlates with normal or low HbA2 values. Zinc protoporphyrin (ZPP) is usually high in ferropenic anemia or lead‐poisoning and is normal or slightly raised in ß‐thalassemia. Therefore, ZPP is currently used as a marker to discriminate between ferropenic anemia and β‐thalassemia. We investigated the diagnostic potential of ZPP < 150 μmol/mol heme in a screening strategy for α‐thalassemia. We measured ZPP and performed DNA analysis for detecting the seven most prevalent α‐thalassemia deletions, namely, α3.7, SEA, α20.5, α4.2, MED, FIL, and THAI, in the blood samples of 200 patients with MCV < 70 fL and HbA2 ≤ 3.5%. Deletions were detected in 9% subjects in the ZPP ≥ 150 group ( n = 175) and 56% subjects in the ZPP < 150 group ( n = 29); this difference was statistically significant (chi‐square test, P < 0.001). We conclude that ZPP < 150 μmol/mol heme can be used in a new screening strategy for α‐thalassemia.