BACKGROUND Glycated hemoglobin(Hb)(HbA1c)is an indicator that is used to diagnose and monitor the treatment of diabetes.Many factors can affect the detection of HbA1c.One of the most important of these factors is the ...BACKGROUND Glycated hemoglobin(Hb)(HbA1c)is an indicator that is used to diagnose and monitor the treatment of diabetes.Many factors can affect the detection of HbA1c.One of the most important of these factors is the Hb variant.Here,we report a rare Hb variant and evaluate its effect on HbA1c.CASE SUMMARY A 35-year-old man was suspected of harboring an Hb variant following the measurement of HbA1c with the Variant II Turbo 2.0 Hb detection system during a routine examination.Subsequently,we used the Arkray HA-8160 and ARCHITECT c4000 system to reanalyze HbA1c.Finally,the Hb variant was detected with a Capillary2FP analyzer that operates on the principle of capillary electrophoresis.We also used gene sequencing to investigate the mutation site.The value of HbA1c detected with the Variant II Turbo 2.0 system was 52.7%.However,the Arkray HA-8160 system did not display a result while the ARCHITECT c16000 system showed a result of 5.4%.The Capillary2FP analyzer did not reveal any abnormal Hb zones.However,gene sequencing identified the presence of a mutation in the Hbβ2 chain[CD2(CAC>TAC),His>Tyr,HBB:c.7C>T];the genotype was Hb Fukuoka.CONCLUSION Hb variants could cause abnormal HbA1c results.For patients with Hb variants,different methods should be used to detect HbA1c.展开更多
Hemoglobin K-Woolwich (Hb KW) is a rare hemoglobin variant with very few cases reported. It is most prevalent in West African countries, particularly Nigeria, Ghana, and the Ivory Coast. Some reports suggest Hb KW may...Hemoglobin K-Woolwich (Hb KW) is a rare hemoglobin variant with very few cases reported. It is most prevalent in West African countries, particularly Nigeria, Ghana, and the Ivory Coast. Some reports suggest Hb KW may be a clinically benign trait, whereas others indicate it may behave similarly to a β+ thalassemia. The combination of hemoglobin S and hemoglobin KW (Hb S/KW) is a rare double heterozygous disorder with little known clinical characteristics. We report the hematologic and clinical data on three patients with Hb S/KW to help describe the characteristics of this patient population. The first two cases represent first cousins, ages 3 and 2 years. They are clinically asymptomatic. They have normal hemoglobin and mean corpuscle volume (MCV) levels without reticulocytosis. The third case is of a 14-year-old male who is non-anemic with no microcytosis. He has been clinically well except for abdominal pain upon dehydration. On hemoglobin electrophoresis, these patients have Hb S levels slightly higher than typically observed with sickle cell trait and a delay of hemoglobin F to adult levels. There exists a need for more reports to better delineate the clinical course and management of these patients.展开更多
文摘BACKGROUND Glycated hemoglobin(Hb)(HbA1c)is an indicator that is used to diagnose and monitor the treatment of diabetes.Many factors can affect the detection of HbA1c.One of the most important of these factors is the Hb variant.Here,we report a rare Hb variant and evaluate its effect on HbA1c.CASE SUMMARY A 35-year-old man was suspected of harboring an Hb variant following the measurement of HbA1c with the Variant II Turbo 2.0 Hb detection system during a routine examination.Subsequently,we used the Arkray HA-8160 and ARCHITECT c4000 system to reanalyze HbA1c.Finally,the Hb variant was detected with a Capillary2FP analyzer that operates on the principle of capillary electrophoresis.We also used gene sequencing to investigate the mutation site.The value of HbA1c detected with the Variant II Turbo 2.0 system was 52.7%.However,the Arkray HA-8160 system did not display a result while the ARCHITECT c16000 system showed a result of 5.4%.The Capillary2FP analyzer did not reveal any abnormal Hb zones.However,gene sequencing identified the presence of a mutation in the Hbβ2 chain[CD2(CAC>TAC),His>Tyr,HBB:c.7C>T];the genotype was Hb Fukuoka.CONCLUSION Hb variants could cause abnormal HbA1c results.For patients with Hb variants,different methods should be used to detect HbA1c.
文摘Hemoglobin K-Woolwich (Hb KW) is a rare hemoglobin variant with very few cases reported. It is most prevalent in West African countries, particularly Nigeria, Ghana, and the Ivory Coast. Some reports suggest Hb KW may be a clinically benign trait, whereas others indicate it may behave similarly to a β+ thalassemia. The combination of hemoglobin S and hemoglobin KW (Hb S/KW) is a rare double heterozygous disorder with little known clinical characteristics. We report the hematologic and clinical data on three patients with Hb S/KW to help describe the characteristics of this patient population. The first two cases represent first cousins, ages 3 and 2 years. They are clinically asymptomatic. They have normal hemoglobin and mean corpuscle volume (MCV) levels without reticulocytosis. The third case is of a 14-year-old male who is non-anemic with no microcytosis. He has been clinically well except for abdominal pain upon dehydration. On hemoglobin electrophoresis, these patients have Hb S levels slightly higher than typically observed with sickle cell trait and a delay of hemoglobin F to adult levels. There exists a need for more reports to better delineate the clinical course and management of these patients.
