Quando a HbA1c não é suficiente: um caso de Hemoglobina de Baltimore / When HbA1c is not enough: a case of Baltimore Hemoglobin / Cuando la HbA1c no es suficiente: un caso de Hemoglobina de Baltimore

A hemoglobina A1c (HbA1c) é o gold standard para monitorização da diabetes mellitus. A HbA1c pode estar falsamente diminuída ou aumentada em algumas situações clínicas, como hemoglobinopatias, não traduzindo adequadamente o controle glicêmico. Apresenta-se aqui o caso de um doente com valor de HbA1c incompatível com os registros de glicemia capilar, devido à presença de hemoglobina N-Baltimore. O caso apresentando é relevante porque, apesar de assintomática, a presença desta hemoglobinopatia conduz a uma diabetes falsamente encarada como controlada, se utilizados os métodos de determinação de HbA1c habituais.

The haemoglobin A1c (HbA1c) test is the gold standard in monitoring diabetes mellitus. HbA1c can be falsely decreased or increased in some particular scenarios, as in hemoglobinopathies, inadequately reporting the glycemic control. Here we present the case of a patient with a HbA1c value incompatible with self-monitoring blood glucose levels, due to the presence of hemoglobin N-Baltimore. This case is relevant because, in spite of being asymptomatic, the presence of this type of hemoglobin leads to an incorrect appearance of glycemic control, if standard methods for HbA1c determination are used.

La hemoglobina A1c (HbA1c) es el estándar de oro para la monitorización de la diabetes mellitus. La HbA1c puede estar falsamente disminuida o aumentada en algunas situaciones clínicas, como hemoglobinopatías, no traduciendo adecuadamente el control glucémico. Se presenta aquí el caso de un paciente con valor de HbA1c incompatible con los registros de glucemia capilar, debido a la presencia de hemoglobina N-Baltimore. El caso que presenta es relevante porque, a pesar de asintomática, la presencia de esta hemoglobinopatía conduce a una diabetes falsamente encarada como controlada, si se utilizan los métodos de determinación de HbA1c habituales.

Recovery of hemoglobin level and blood pressure in workers unfit for duties at high altitude following relocation / 中华劳动卫生职业病杂志

Objective@#To determine the hemoglobin level and blood pressure and the factors that influence their recovery in relocated workers who were unfit for duties at high altitude.@*Methods@#The physical examination data of 693 relocated workers who previously worked at high altitude were dynamically monitored from January 2006 to June 2015 in order to examine the recovery of hemoglobin level and blood pressure.@*Results@#The rate of hemoglobin recovery was 81.37% among the 161 relocated workers with abnormal hemoglobin levels, and the rate of blood pressure recovery was 69.51% among the 164 relocated workers with abnormal blood pressure. The rates of hemoglobin and blood pressure recovery were decreased in individuals aged 40 years and older. The peak recovery time of hemoglobin was 11-15 months following relocation, and that of blood pressure was 5-7 months and 11-13 months following relocation. The half-year blood pressure recovery rate and 2-year hemoglobin recovery rate following relocation were significantly higher in workers who worked at 2500-3000 m altitude than in those at ≥3000 m (P<0.05) . Total cholesterol and educational level were factors that influence the half-year blood pressure recovery in relocated workers (P<0.05) .@*Conclusion@#The rate of hemoglobin and blood pressure recovery are high among relocated workers who previously worked at high altitude. Factors that influence blood pressure, such as total cholesterol, should be closely monitored so that high-altitude workers with abnormal blood pressure and hemoglobin level can be relocated as early as possible.

Influences of hemoglobin variants on different HbA1c measurement systems / 中华检验医学杂志

Objective To assess influences of hemoglobin variants on different HbA 1c measurement systems.Methods HbA1c values of normal samples and samples with hemoglobin variants were measured respectively byenzymatic assay (Norudia N HbA1c,SEKISUI), immunity transmission turbidity (oneHbA1c FS,DiaSys), boronate affinity HPLC(Ultra2,Trinity Biotech), capillary electrophoresis(Capillary 2 Flex Piercing,Sebia)and ion exchange HPLC(HA8160,Arkary;Variant Ⅱ Turbo(VⅡ-T),Bio-Rad;Variant ⅡTurbo 2.0 (VⅡ-T 2.0), Bio-Rad).HbA1c values from different hemoglobin variants and HbA1c measurement systems were analyzed .Results The HbA1c values from the 7 HbA1c measurement systems were well correlatedin normal samples .For HbE heterozygote , the HbA1c values from VⅡ-T were divided into 2 groups comparing with CFP , and HbA1c differences between CFP and other measurement systems are minor except for HA8160 and VⅡ-T.The HbA1c values of homozygous HbE were given by Ultra 2 but CFP and VⅡ-T 2.0.The differences of HbA1c values from samples with J-Bangkok are much higher than those from the samples with other hemoglobin variants .The differences of HbA1c values from samples with all kinds of hemoglobin variants(Hb J-Bangkok, Hb J-Newyork, Hb G-Taipei and Hb G-Coushatta)are dramatic for VⅡ-T.For rare Kurosaki, CFP can give a hint that there existshemoglobin variant while measuring HbA 1c. Conclusions Capillary Flex 2 Piercingcan well recognize common hemoglobin variants . Different hemoglobin variants have different influences on different HbA 1c measurement systems.The influences of J-Bangkok among HbA1c measurement systems are more evident than the other common hemoglobin variants .

Analysis on laboratory index characteristics of pulmonary hypertension patients with different function states and pressure stages / 重庆医学

Objective To analyze the laboratory index characteristics of pulmonary hypertention (PH ) patients with different function states and pressure stages .Methods 2 752 patients diagnosed with PH in the outpatient department ,emergency depart-ment and inpatient department of this hospital from January 2006 to December 2011 were retrospectively analyzed .The clinical as-sessment of the disease condition was done according to the function state and pressure stage of PH recommended by WHO .The characteristics of hematological indexes ,inflammatory indicators and blood gas analysis were observed as well .Results The most common hematological abnormal indexes were the serum brain natriuretic peptide (BNP) elevation(89 .12% ) ,abnormal liver func-tion(58 .32% ) and abnormal hemoglobin(58 .32% ) .The proportion of the PH patients with the elevation of erythrocyte sedimenta-tion rate(ESR) and high-sensitivity C-reactive protein (hs-CRP) were 78 .52% and 73 .59% respectively .The constituent ratio of the BNP increase ,liver function abnormality ,abnormal hemoglobin ,elevation of UA and ESR had statistical differences among the PH patients with different function states and pressure stages (P<0 .05) .The most commonly blood gas analysis abnormality was hypoxemia(83 .08% ) .Respiratory alkalosis had the highest incidence rate in the acid-base imbalance(24 .58% ) .Conclusion The most common hematological abnormal indexes among PH patients are the elevation of serum BNP ,abnormal liver function and he-moglobin abnormality .The laboratory abnormal indexes of above 3 items and the increase of UA and ESR are always related with the severity of disease ,which should to be followed-up .

Interference of hemoglobin variants on HbA1c measuring systems / 中华检验医学杂志

There are many factors which may interfere with HbA1c measurement.Hemoglobin variant is one of the most important factors.Different hemoglobin variants may interference with different HbA1c measuring systems,resulting in HbA1c analytic interference or clinically misleading because of the values do not reflect the true glucose levels.This may affect clinical dignosis and disease monitoring.

Alpha chain hemoglobins with electrophoretic mobility similar to that of hemoglobin S in a newborn screening program

OBJECTIVE: To characterize alpha-chain variant hemoglobins with electric mobility similar to that of hemoglobin S in a newborn screening program. METHODS: βS allele and alpha-thalassemia deletions were investigated in 14 children who had undefined hemoglobin at birth and an electrophoretic profile similar to that of hemoglobin S when they were six months old. Gene sequencing and restriction enzymes (DdeI, BsaJI, NlaIV, Bsu36I and TaqI) were used to identify hemoglobins. Clinical and hematological data were obtained from children who attended scheduled medical visits. RESULTS: The following alpha chain variants were found: seven children with hemoglobin Hasharon [alpha2 47(CE5) Asp>His, HbA2:c.142G>C], all associated with alpha-thalassemia, five with hemoglobin Ottawa [alpha1 15(A13) Gly>Arg, HBA1:c.46G>C], one with hemoglobin St Luke's [alpha1 95(G2) Pro>Arg, HBA1:c.287C>G] and another one with hemoglobin Etobicoke [alpha212 84(F5) Ser>Arg, HBA212:c.255C>G]. Two associations with hemoglobin S were found: one with hemoglobin Ottawa and one with hemoglobin St Luke's. The mutation underlying hemoglobin Etobicoke was located in a hybrid α212 allele in one child. There was no evidence of clinically relevant hemoglobins detected in this study. CONCLUSION: Apparently these are the first cases of hemoglobin Ottawa, St Luke's, Etobicoke and the α212 gene described in Brazil. The hemoglobins detected in this study may lead to false diagnosis of sickle cell trait or sickle cell disease when only isoelectric focusing is used in neonatal screening. Additional tests are necessary for the correct identification of hemoglobin variants.

Genetic study of a case with abnormal hemoglobin Ta-li combined with hereditary persistence of fetal hemoglobin / 中华检验医学杂志

ObjectiveTo investigate the genotype of a case with abnormal hemoglobin combined with hereditary persistence of fetal hemoglobin (HPFH).Methods Male patient,26 years old,were suspected abnormal hemoglobin combined with HPFH after receiving medical examination including hematology exmination,hemoglobin electrophoresis,erythrocyte osmotic fragility analysis in Guangzhou Kingmed Diagnostics in September 2010.Routine examination of anemia and hemoglobin electrophoresis at alkaine pH on agarose gels were applied to analyze the phenotype.Direct sequencing of the complete HBB gene was utilized to identify the hemoglobin variant.Multiplex ligation-dependent probe amplification (MLPA) assay was used to identify the presence of β-globin gene cluster deletion.Gap polymerase chain reaction (gap-PCR) was used to amplify the HBB gene fragment across the breakpoint,and the deletion breakpoint was characterized by direct sequencing the gap-PCR product and comparing the sequencing result with the reference sequence NC_000011.9.ResultsBy direct sequencing of the complete HBB gene,the patient in this study was found to carry a hemoglobin Ta-Li (HBB:c.250G ＞ T) mutation.By combining use of MLPA and gap-PCR with gene sequencing,we found that it had a gross deletion in the β-globin gene cluster,the deletion region was NC_000011.9:g.5222878_5250288del.Therefore,the genotype of this subject was SEA-HPFH combined with abnormal hemoglobin Ta-li.ConclusionCombining application of MLPA and gap-PCR with gene sequencing can help to make sure the genotype.

Hemoglobin H disease combining hemoglobin Q-thailand and hemoglobin E disease:a clinical and laboratory genealogical research / 中华检验医学杂志

Objective To investigate clinically and in laboratory a genealogical tree with hemoglobin H disease Combining Hemoglobin Q-Thailand and Hemoglobin E Disease.Methods Genealogical laboratory studies were carried out with the following methods:hemoglobin electrophoresis, various biochemical determinations,and DNA analysis.Results Father's genotype of ?-THAL:??/?~Q ?~(4.2); genotype of ?-THAL:?E/N;phenotype:minor ?-THAL carrier combining Hb Q and Hb E multiple heterozygote;mother' s genotype of ct-THAL:--~(SEA)/??;genotype of ?-THAL:?n/?n.According to comprehensive analysis,mother's phenotype:minor ?-THAL,complex minor ?-THAL carrier combining Hb F ? Initial sign of ?-THAL genotype:--~(SEA)/?~Q ?~(4.2);phenotype:deletion type Hb H genotype disease;?- THAL genotype:?E/?E;phenotype:? E homozygote.According to comprehensive analysis:deletion type Hb H combining HbE multiple heterozygote.Youger brother's ?-THAL genotype:--~(SEA)/?~Q ?~(4.2);?-THAL genotype:?n/?n;phenotype:deletion type Hb H disease.Both mother and her youngest son have G6PD deficiency.Conclusions Guangdong Province is an area with high morbidity of ?-THAL and ?-THAL,Hb E and Hb Q as well as G6PD deficiency.There may be some correlation between Hb E and Fib Q in term's of the high morbidity of regional Hb,but the two types of Hb combining Hb H disease are rare in China and the world in point of nonhomologous chromosome.Attention should be paid to the problems of double heterozygote of ?-THAL complex ?-THAL,and THAL complex G6PD deficiency.Data from the study have enriched the scientific information of molecular genetics of erythroeyte thalassemia and of molecular pathology with important significance in genetics guidance and clinical treatment for patients.