Reticulocyte parameters of delta beta thalassaemia trait, beta thalassaemia trait and iron deficiency anaemia

Velasco-Rodríguez, Diego; González-Fernández, Fernando-Ataúlfo; Villarrubia, Jesús; Sopena, María José Martínez; Abalo, Lorena; Ropero, Paloma; Nieto, Jorge M.; Gonzalo, Félix de la Fuente; Cava, Fernando

doi:10.1136/jclinpath-2015-203034

Cited by 8 publications

(3 citation statements)

References 34 publications

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“…18 Wollmann et al, demonstrated that reticulocyte indices related to maturity may be utilized as early markers of IDA and anemia based on their findings that in comparison to control group, individuals suffering from IDA presented with an increased proportion of mean fluorescence ration (10.3 ± 4.7% vs. 6.0 ± 3.4%; p-value= 0.003) and high fluorescence ratio (2.3 ± 0.87% vs. 0.9 ± 0.9%; p-value=0.03). 19 Choi et al, compared reticulocyte maturity indices & iron-related parameters between healthy and iron deficient females. The study demonstrated that middle & high fluorescence ratios started increasing when serum iron and serum ferritin levels were depleted.…”

Section: Discussionmentioning

confidence: 99%

Diagnostic Significance of Measuring Reticulocyte Maturity Indices in Iron Deficiency Anaemia

Ahmed

Mahmood

Uddin

et al. 2021

PAFMJ

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Objective: To evaluate the diagnostic significance of reticulocyte maturity indices in iron deficiency anaemia. Study Design: Comparative cross-sectional study. Place and Duration of Study: Department of Hematology, Armed Forces Institute of Pathology, Rawalpindi, from Sep 2019 to Jun 2020. Methodology: A total of 340 children, ages between 1 and 5 years of either gender, were divided into two groups based on haemoglobin and ferritin level. Group A comprised of 203 children with haemoglobin >11 g/dL andferritin level >7 ng/ mL. Group B comprised of 137 children with haemoglobin <11g/dL and ferritin <7 ng/mL. Red blood cell and reticulocyte parameters were compared. Results: Iron deficiency anaemia was found to be 37.6% in the study population. Comparison revealed that the children in groups B had significantly higher mean red cell distribution width (17.1 ± 1.3% vs. 13.3 ± 1.3%) and significantly lower hemoglobin (9.5 ± 1.0 g/dL vs. 12.7 ± 1.0 g/dL), mean corpuscular hemoglobin (21.8 ± 2.5 pg vs. 28.6 ± 2.3 pg), mean corpuscular volume (69.4 ± 3.5 fL vs. 80.4 ± 3.3 fL), mean corpuscular hemoglobin concentration (31.5 ± 1.8 g/dL vs. 32.7 ± 1.6 g/dL) and serum ferritin level (4.5 ± 2.6 mg/mL vs. 55.9 ± 32.1 ng/mL). No significant differences in the mean total red blood cell count, hematocrit and reticulocytes between two groups were noted (p>0.05) and significant differences were noted in terms of low, medium & high fluorescence ratios in both groups (p<0.05). Conclusion: Our findings suggest that medium fluorescence ratio and high fluorescence ratio.......

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Section: Discussionmentioning

confidence: 99%

Diagnostic Significance of Measuring Reticulocyte Maturity Indices in Iron Deficiency Anaemia

Ahmed

Mahmood

Uddin

et al. 2021

PAFMJ

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“…These limitations in existing assays are the sources of diagnostic pitfalls in carrier screening and genetic counselling. Thus, it is crucial to have efficient tools to cover both small and large deletions in order to give the patients the most appropriate genetic counselling [27]. In the current study, we report two cases of homozygous G γ( A γδβ) 0 ‐ thalassemia associated with a gross deletion in the β‐globin gene cluster in two unrelated Indian families, both of which were identified using high‐resolution mass spectrometry.…”

Section: Introductionmentioning

confidence: 89%

Identification of a rare [^Gγ(^Aγδβ)⁰] ‐thalassemia using tandem mass spectrometry

Bellad,

Rangiah,

Sathe

et al. 2024

Proteomics

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Thalassemias are a group of inherited monogenic disorders characterized by defects in the synthesis of one or more of the globin chain subunits of the hemoglobin tetramer. Delta‐beta (δβ‐) thalassemia has large deletions in the β globin gene cluster involving δ‐ and β‐globin genes, leading to absent or reduced synthesis of both δ‐ and β‐globin chains. Here, we used direct globin‐chain analysis using tandem mass spectrometry for the diagnosis of δβ‐thalassemia. Two cases from unrelated families were recruited for the study based on clinical and hematological evaluation. Peptides obtained after trypsin digestion of proteins extracted from red blood cell pellets from two affected individuals and their parents were analyzed using liquid chromatography‐tandem mass spectrometry (LC‐MS/MS). Mass spectrometric analysis revealed a severe reduction in δ, β, and Aγ globin proteins with increased Gγ globin protein in the affected individuals. The diagnosis of Gγ(Aγδβ)0 ‐thalassemia in the homozygous state in the affected individuals and in the heterozygous state in the parents was made from our results. The diagnosis was confirmed at the genetic level using multiplex ligation‐dependent probe amplification (MLPA). Our findings demonstrate the utility of direct globin protein quantitation using LC‐MS/MS to quantify individual globin proteins reflecting changes in globin production. This approach can be utilized for accurate and timely diagnosis of hemoglobinopathies, including rare variants, where existing diagnostic methods provide inconclusive results.

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“…When AUC is greater than or equal to 0.70, the positive rate and detection rate were analyzed in combination with Youden index, specific positive rate, specific detection rate, and the appropriate cut-off value for the corresponding index was determined. At the same time, 8 formulas with different blood routine parameters (1: MCV/RBC [9] ; 2: MCH/RBC [10] ; 3: MCV^2*MCH/100 [11] ; 4: MCV-10*RBC [12] ; 5: MCV-RBC-3*HGB [12] ; 6: MCV-RBC-5*HGB [13] ; 7: |80-MCV|*|27-MCH| [7] ; 8: HGB/RBC) [14] were employed to discriminate carriers of α, β, αβ-thalassemia, respectively. The accuracy of each formula was compared by ROC-AUC.…”

Section: Methodsmentioning

confidence: 99%

Comparison of screening indicators for different types of thalassemia carriers in Hunan Province

Tang,

Yu,

et al. 2024

J Med Biochemistry

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Backgroud: Carrier screening is the most effective method to block the occurrence of thalassemia. However, due to differences in race and genotype, MCV, MCH, HbA2 and other indicators are far from each other. The purpose of this study is to evaluate the common screening indicators of α, β and αβ-compound thalassemia carriers in Hunan Province, and try to use the relevant formulas in the existing literature to predict and distinguish different types of thalassemia carriers. Methods: Receiver operating characteristic curve (ROC curve) combined with Youden index was utilized to analyze results of blood routine examination, hemoglobin electrophoresis, and literature-related formulas for 1111 α-thalassemia carriers, 464 β-thalassemia carriers and 24 αβ-thalassemia carriers. Results: For α-thalassemia carriers, no matter which screening index or formula, the screening efficiency was not ideal. For β-thalassemia minor carriers, RBC, RDW_CV, Hb_A2, Hb_F and formula 5-7 could be used, and for compound thalassemia, RBC, RDW_CV, Hb_A2 and formula 5-6 are suitable. Hb_A2 has high efficiency in the screening of β-thalassemia minor and αβ-thalassemia. For the screening of β-thalassemia minor, if the cut-off value of HbA2 is set to 3%, the detection rate of 93.32% can be obtained at the positive rate of 9.6%, and if it is set to 3.15%, the detection rate can also reach 81.68% at the positive rate of 2.89%. For αβ-thalassemia, if the cut-off value of HbA2 is set to 3%, the detection rate of 95.83% can be obtained under the positive rate of 8.08%. Conclusions: Different screening indicators and formulas have different efficiencies for different thalassemia carriers. α-thalassemia carriers are easily missed by screening indicators or corresponding formulas. HbA2 is a better screening indicator for both β-thalassemia minor carriers and αβ-thalassemia carriers, and formulas 5, 6, and 7 are suitable for β-thalassemia minor carriers, and formulas 5 and 6 are better for αβ-thalassemia carriers. To fully and objectively understand each screening index, data support has been provided for clinical and laboratory tests.

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Reticulocyte parameters of delta beta thalassaemia trait, beta thalassaemia trait and iron deficiency anaemia

Abstract: Previously described differences between δβ-TT, β-TT and IDA in the corpuscular indices of mature red blood cell can also be observed in reticulocytes. The degree of anisocytosis in reticulocytes from patients with thalassaemia is correlated with HbF.

Cited by 8 publications

References 34 publications

Diagnostic Significance of Measuring Reticulocyte Maturity Indices in Iron Deficiency Anaemia

Diagnostic Significance of Measuring Reticulocyte Maturity Indices in Iron Deficiency Anaemia

Identification of a rare [^Gγ(^Aγδβ)⁰] ‐thalassemia using tandem mass spectrometry

Comparison of screening indicators for different types of thalassemia carriers in Hunan Province

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Reticulocyte parameters of delta beta thalassaemia trait, beta thalassaemia trait and iron deficiency anaemia

Abstract: Previously described differences between δβ-TT, β-TT and IDA in the corpuscular indices of mature red blood cell can also be observed in reticulocytes. The degree of anisocytosis in reticulocytes from patients with thalassaemia is correlated with HbF.

Cited by 8 publications

References 34 publications

Diagnostic Significance of Measuring Reticulocyte Maturity Indices in Iron Deficiency Anaemia

Diagnostic Significance of Measuring Reticulocyte Maturity Indices in Iron Deficiency Anaemia

Identification of a rare [Gγ(Aγδβ)0] ‐thalassemia using tandem mass spectrometry

Comparison of screening indicators for different types of thalassemia carriers in Hunan Province

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Product

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Identification of a rare [^Gγ(^Aγδβ)⁰] ‐thalassemia using tandem mass spectrometry