Diagnosis of microcytic hypochromic anemia with red blood cell survival via carbon monoxide breath-red blood cell survival

Luqian Li,Huimin Deng,Wen Ma,Yiwen Zhou

doi:10.1590/fst.53121

Abstract

Measuring red blood cell survival (RBCS) by a carbon monoxide breath test can help diagnose and analyze disease type and progression of anemia. In this study, we reported the application of RBCS in the differential diagnosis of thalassemia and iron deficiency anemia (IDA). A total of 233 patients were selected in this study, including 48 IDA, 60 thalassemia, and 125 healthy individual controls. The endogenous alveolar CO of each subject was measured by RBCS-01 red blood cell lifespanmeter to obtain the RBCS values. The mean RBCS for mild β-thalassemia, severe β-thalassemia, α-thalassemia, IDA and the control were 67.5±22.0, 31.3±13.9, 69.3±27.7, 78.2±28.2 and 114.3±33.8 days, respectively (P<0.05). RBCS values for thalassemia and IDA patients showed obvious shorter lifespan compared to healthy controls. The cutoff points for thalassemia, IDA and control were <72.5 and <83.5, respectively. RBCS showed a strong positive correlation to red blood cells (RBC) and hemoglobin (HGB) in thalassemia patients. In IDA patients, RBCS demonstrated a moderate positive correlation with HGB, mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), and red cell distribution width (RDW). There were significant differences between RBCS in different types of thalassemia. RBCS by endogenous alveolar CO testing is a rapid and reliable method for the differential diagnosis of thalassemia and IDA.

Highlights

Haemolysis occurs in many haematologic, non-haematologic diseases and transfusion of stored blood. α and β thalassemia are characterized by small cell, hypochromic anemia and are often misdiagnosed as iron deficiency anaemia (IDA)
The red blood cell survival (RBCS) value from the thalassemia group showed significant difference compared to iron deficiency anemia (IDA) group or the control group
red blood cells (RBC) counts between IDA patients and healthy controls were significantly different

Summary

Introduction

Haemolysis occurs in many haematologic, non-haematologic diseases and transfusion of stored blood. α and β thalassemia are characterized by small cell, hypochromic anemia and are often misdiagnosed as iron deficiency anaemia (IDA). Haemolysis occurs in many haematologic, non-haematologic diseases and transfusion of stored blood. Α and β thalassemia are characterized by small cell, hypochromic anemia and are often misdiagnosed as iron deficiency anaemia (IDA). The potential mechanisms associated with transfusion-related toxicity remain controversial, and the relative contribution of intra- vs extra-vascular haemolysis is still under discussion (Rapido, 2017). When there is microcytic anemia but iron therapy is not improved or anemia, especially in high-risk groups, the characteristics of thalassemia should be considered. Certain characteristics of the complete blood count (CBC) index may suggest thalassemia characteristics, such as a microcytic anemia and an increase in RBC counts. The β thalassemia trait can be diagnosed by detecting elevated Hb A2. The α thalassemia profile can be diagnosed by displaying a hemoglobin H body on a peripheral blood smear using a special stain. In some thalassemia patients with suspected phenotypic outcomes, genetic testing for specific thalassemia mutations may be needed(Akers et al, 2017)

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