Heterozygous Hb Hope [β136(H14)Gly→Asp] in Association with Heterozygous β<sup>0</sup>-Thalassemia with Apparent Homozygous Expression, in a Spanish Patient

Benéitez, David; Carrera, Alicia; Duran-Suárez, Joan Ramón; Paz, Victoria; León, Antonio Cabrera de; Talavera, Juan García

doi:10.1080/03630260500454238

Cited by 6 publications

(7 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The prevalence of this particular condition in Thailand has not yet been studied, but we hypothesised that Hb Hope may be relatively common in the northern part of Thailand because the homozygozity can be generated without consanguinity. Clinical features of heterozygous Hb Hope have been reported in several previous papers (1–10). To the best of our knowledge, this is the first time that clinical characterisation of homozygous Hb Hope with and without concomitant α thalassaemia mutation has been described.…”

Section: Discussionmentioning

confidence: 68%

See 1 more Smart Citation

Haemoglobin Hope in a northern Thai family: first identification of homozygous haemoglobin Hope associated with haemoglobin H disease

Sura

Busabaratana

Youngcharoen

et al. 2007

European J of Haematology

View full text Add to dashboard Cite

Haemoglobin (Hb) Hope [beta136(H14)Gly-->Asp(GGT-->GAT)] is one of the unstable haemoglobin variants of the beta-globin chain, which is demonstrated in people of various ethnic backgrounds. Here we report a Thai female patient with clinical thalassaemia intermedia since childhood. This patient had experienced neither blood transfusion nor hospitalisation. Hb Bart's-H and a large amount of Hb Hope were identified by high-performance liquid chromatography (HPLC) assay and the diagnosis of homozygous Hb Hope was definitely achieved by direct sequencing of exon 3 of beta-globin gene. Furthermore, we could identify that her brother carried the mutation of homozygous Hb Hope without abnormal alpha globin chain involvement, and another family member had heterozygous Hb Hope in association with -alpha(3.7) mutation, and both of them were clinically silent.

show abstract

Section: Discussionmentioning

confidence: 68%

“…Hb Hope [β136(H14)Gly→Asp(G G T→G A T)] is one of the β globin chain variants, which is rarely reported. It was first described in people of African ethnicity, and then in populations in Japan, Thailand, Laos, Cuba, Mauritius and Spain (1–10). This variant Hb is mildly unstable and has reduced oxygen affinity, but is generally innocuous clinically (2).…”

mentioning

confidence: 99%

Haemoglobin Hope in a northern Thai family: first identification of homozygous haemoglobin Hope associated with haemoglobin H disease

Sura

Busabaratana

Youngcharoen

et al. 2007

European J of Haematology

View full text Add to dashboard Cite

show abstract

“…The heterozygous Hb Hope is usually associated with an asymptomatic clinical situation, but when this Hb is associated with β-thalassemia, the clinical expression could be anemia. 20 Although the anemia indicated by the decrease of Hb and hematocrit values was found in some samples, β 0 -thalassemia mutations were not found in all 11 samples. This result suggested that the elevated HbA 2 measured by CE may be due to the coelution of several Hb Hope adducts with HbA 2 , not because of β-thalassemia.…”

Section: Discussionmentioning

confidence: 91%

Interference of Hemoglobin Hope on β-Thalassemia Diagnosis by the Capillary Electrophoresis Method

Panyasai¹,

Sukunthamala²,

Jaiping³

et al. 2011

Am J Clin Pathol

View full text Add to dashboard Cite

The β-chain hemoglobin (Hb) variants interfere with the diagnosis of β-thalassemia trait using high-performance liquid chromatography (HPLC) and capillary electrophoresis (CE). We analyzed the effect of Hb Hope, a β-chain Hb variant frequently found in the Thai population, on β-thalassemia trait diagnosis. HPLC and CE were used to quantify the level of HbA(2) in 11 whole blood samples containing Hb Hope. The levels of Hb Hope detected by both methods were similar. An elevated HbA(2) level was found in all samples analyzed by the CE method, while 1 was increased when analyzed by HPLC, which was a compound heterozygous of Hb Hope and α-thalassemia-1 SEA-type deletion. Of 11 samples, 6 had mean corpuscular volumes within the reference range. All samples showed negative results for molecular analysis of β(0)-thalassemia codon 17, 41/42, and 71/72 mutations and β-thalassemia 3.5-kb deletion. Therefore, Hb Hope interfered with the diagnosis of β-thalassemia trait analyzed by CE but not by HPLC.

show abstract

“…Hb Hope is one of the 700 haemoglobin variants identified till date that is clinically silent or is a silent variant that does not present with any clinical symptoms usually [9]. Hb Hope [β136 (H14)Gly→Asp (GGT→GATOMIM: 141900.0112; dbSNP: 33949486)] has been reported in several African-American families, as well as in Japanese, Thai, Laotian, Cuban and Mauritanian families but is extremely rare in Indian population or is under reported [10].…”

Section: Resultsmentioning

confidence: 99%

Haemoglobin Hope: A Rare Hb Variant Causing Spuriously Elevated HbA1c Values on HPLC Assay

Gupta¹

2016

NJLM

View full text Add to dashboard Cite

Introduction: Hb Hope is a clinically asymptomatic β-chain variant [beta136 (H14) Gly→Asp (GGT→GAT)]. It is more prevalent in Mediterranean region of the world than in Asian countries and extremely rare in India. Aim:To evaluate the interference of clinically silent and extremely rare variant; haemoglobin Hope (Hb Hope) on the final reported value of glycated haemoglobin (HbA1c) by high performance liquid chromatography (HPLC). Materials and Methods:Eight EDTA blood samples showed very high values of HbA1c (>50 gm%) when processed by Bio-Rad Variant II turbo (HPLC). These were further processed for by capillary electrophoresis to look for the abnormal haemoglobin. Glycated Hb was also measured by immunoturbidimetry.Results: On HPLC, single abnormally high peak was observed for all the samples in the chromatogram leading to very high glycated haemoglobin values while in immunoturbidimetric assay reportable values were obtained. Moreover, capillary electrophoresis showed the presence of haemoglobin Hope in all the samples. Conclusion:Hb hope might lead to overestimation and possible misinterpretation of glycated haemoglobin results. Hb Hope is extremely rare in India but the possibility of interference by such clinically silent variant should always be kept in mind while interpreting the HbA1c values. INTRODUCTIONGlycated haemogobin (HbA1c) is a result of non-enzymatic glycation of hemoglobin with plasma glucose and is known to be clinically important in identifying the average plasma glucose concentration over periods of time. HbA1c is a measure of the beta-N-1-deoxy fructosyl component of haemoglobin. The extent of glycation and the relative involvement of β chains of haemoglobin remain unclear [1, 2]. HbA1c is expressed as the percentage of total haemoglobin which is 50% higher than HbA1c alone. Depending on the method used for estimating, the level of HbA1c is approximately 4-6% in healthy patients without diabetes. In clinical practice, the measurement of HbA1c serves as the marker the glycaemic control over the last three months and to determine whether the patient's blood glucose levels have remained within the target range [3]. Various methods and techniques such as high performance liquid chromatography (HPLC), immunoagglutination, boronate affinity assays, and electrophoresis have been developed based on different principles to measure HbA1C clinically but the designated DCCT comparison method is a cation exchange HPLC [4,5]. Despite advances in the measurement of glycated haemoglobin, an increasing number of hemoglobinopathies have been reported to cause falsely elevated or falsely low HbA1c results [3].Hb Hope is a clinically asymptomatic [beta136 (H14) Gly→Asp (GGT→GAT)] unstable variant of the β-globin chain that is frequently found in the Thai population [6]. It is extremely rare in India. We report the interference of Hb Hope with glycated haemoglobin values in South India. MATERIALS AND METHODSIt is a clinical study conducted in Department of Biochemistry, Kasturba Hospital, Manipal from A...

show abstract

Heterozygous Hb Hope [β136(H14)Gly→Asp] in Association with Heterozygous β⁰-Thalassemia with Apparent Homozygous Expression, in a Spanish Patient

Cited by 6 publications

References 8 publications

Haemoglobin Hope in a northern Thai family: first identification of homozygous haemoglobin Hope associated with haemoglobin H disease

Haemoglobin Hope in a northern Thai family: first identification of homozygous haemoglobin Hope associated with haemoglobin H disease

Interference of Hemoglobin Hope on β-Thalassemia Diagnosis by the Capillary Electrophoresis Method

Haemoglobin Hope: A Rare Hb Variant Causing Spuriously Elevated HbA1c Values on HPLC Assay

Contact Info

Product

Resources

About

Heterozygous Hb Hope [β136(H14)Gly→Asp] in Association with Heterozygous β0-Thalassemia with Apparent Homozygous Expression, in a Spanish Patient

Cited by 6 publications

References 8 publications

Haemoglobin Hope in a northern Thai family: first identification of homozygous haemoglobin Hope associated with haemoglobin H disease

Haemoglobin Hope in a northern Thai family: first identification of homozygous haemoglobin Hope associated with haemoglobin H disease

Interference of Hemoglobin Hope on β-Thalassemia Diagnosis by the Capillary Electrophoresis Method

Haemoglobin Hope: A Rare Hb Variant Causing Spuriously Elevated HbA1c Values on HPLC Assay

Contact Info

Product

Resources

About

Heterozygous Hb Hope [β136(H14)Gly→Asp] in Association with Heterozygous β⁰-Thalassemia with Apparent Homozygous Expression, in a Spanish Patient