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1.
FP Essent ; 485: 24-31, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31613565

RESUMO

Hemoglobinopathies are genetic disorders that lead to abnormal structure of the hemoglobin molecule. Genetic mutation results in major changes in the hemoglobin structure, with dysfunctions related to changes in shape, oxygen-carrying capacity, or ability to clump together, causing obstruction of the vascular system. Sickle cell disease and beta thalassemia major are two common hemoglobinopathies worldwide. However, they occur infrequently in the United States, with approximately 101,000 individuals affected. Sickle cell disease phenotypically is exhibited in patients with two hemoglobin S genes but the disease broadly includes many other hemoglobin abnormalities. Complications vary according to genotype and include acute pain crisis, vasoocclusive events, and acute chest syndrome. Blood transfusions are a mainstay of therapy. The two main categories of thalassemias are beta thalassemias and alpha thalassemias. Symptoms range from severe to none. The severity depends on how many genes are affected. Patients with the most severe form of beta thalassemia (ie, two affected genes) are categorized as having thalassemia major or transfusion-dependent disease. The primary treatment for beta thalassemia major currently is transfusions, although stem cell transplantation is a potentially curative option.


Assuntos
Anemia Falciforme , Hemoglobinopatias , Talassemia , Talassemia beta , Transfusão de Sangue , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/terapia , Humanos
2.
Hemoglobin ; 43(3): 214-217, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31450984

RESUMO

We report the molecular and hematological identifications of a Hb A2 variant [coinheritance of Hb A2-Melbourne (HBD: c.130G>A) and Hb E (HBB: c.79G>A)] found for the first time in the Lao People's Democratic Republic (PDR). The subject was a 29-year-old pregnant Laotian woman who was a foreign worker in Thailand and was diagnosed with thalassemia and hemoglobinopathies. Capillary electrophoresis (CE) demonstrated 1.6% of Hb A2, with a minor unknown peak at the initial Z1 zone (1.7%). Identification of abnormal hemoglobin (Hb) using direct DNA sequencing showed a genetic defect causing a δ-globin gene missense mutation at codon 43 (GAG>AAG) causing a glutamic acid to lysine substitution corresponding to Hb A2-Melbourne. The origin of Hb A2-Melbourne in Lao PDR may be similar to a case found in Thailand with the [+ - - - - + +] haplotype. We developed a method that could clearly detect Hb A2-Melbourne and Hb A2-Lampang (HBD: c.142G>A) mutations in a single tube using high resolution melt (HRM) analysis. The HRM analysis is a more effective method for rapid detection than conventional polymerase chain reaction (PCR), as there is no need for a post-PCR step, and no exposure to ethidium bromide. This new method would be a useful addition for the first investigation of a suspected Hb A2 variant in the routine molecular setting.


Assuntos
Alelos , Genótipo , Hemoglobina E/genética , Hemoglobinas Anormais/genética , Padrões de Herança , Mutação , Biomarcadores , Análise Mutacional de DNA , Índices de Eritrócitos , Feminino , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/genética , Humanos , Laos , Reação em Cadeia da Polimerase , Gravidez
3.
Hemoglobin ; 43(3): 204-206, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31397596

RESUMO

We describe Hb Alcorn County, a heterozygous hemoglobin (Hb) variant, in a 6-month-old Hispanic male and his mother. DNA sequencing demonstrated a mutation on the HBB gene [ß40(C6)Arg→Thr; HBB: c.122G>C (p.Arg41Thr)], predictive of a substitution of arginine to threonine at position 40 of the ß-globin protein. This amino acid substitution involves the α1ß2 contact and occurs at the same position as Hb Austin [ß40(C6)Arg→Ser; HBB: c.[123G>C or 123G>T] (p.Arg41Ser)] and Hb Athens-GA [ß40(C6)Arg→Lys; HBB: c.122G>A (p.Arg41Lys)], both of which show increased oxygen affinity.


Assuntos
Alelos , Substituição de Aminoácidos , Mutação , Oxigênio/metabolismo , Globinas beta/genética , Globinas beta/metabolismo , Cromatografia Líquida de Alta Pressão , Análise Mutacional de DNA , Predisposição Genética para Doença , Genótipo , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/genética , Hemoglobinopatias/metabolismo , Humanos , Lactente , Masculino , Fenótipo , Ligação Proteica , Globinas beta/análise
4.
Hemoglobin ; 43(3): 207-209, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31387435

RESUMO

We describe here a previously unreported hemoglobin (Hb) variant, Hb Gibbon [ß124(H2)Pro→Thr (HBB: c.373C>A, p.P125T)] detected by newborn Hb screening in a term male with no family history for hemoglobinopathy or other screening abnormalities. This missense mutation produces a ß-globin chain variant that was detected by high performance liquid chromatography (HPLC) methods, but is silent by capillary electrophoresis (CE). DNA sequencing studies revealed that his father was also a heterozygote for this mutation. Neither has abnormalities on complete blood count (CBC) or any symptomatology.


Assuntos
Alelos , Substituição de Aminoácidos , Doenças Assintomáticas , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/genética , Globinas beta/genética , Cromatografia Líquida de Alta Pressão , Análise Mutacional de DNA , Genótipo , Hemoglobinas Anormais/genética , Humanos , Recém-Nascido , Triagem Neonatal , Globinas beta/análise , Globinas beta/metabolismo
5.
Ann Clin Lab Sci ; 49(3): 400-402, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31308043

RESUMO

BACKGROUND: Hemoglobin electrophoresis is a common clinical laboratory test for the identification of hemoglobinopathies in clinical practice. We investigated the utilization of this test in our academic teaching hospital and hypothesized that hemoglobin electrophoresis evaluation is overutilized at this institution. METHODS: 128 consecutive cases were analyzed and their medical records were studied to determine the clinical indication for the hemoglobin electrophoresis. RESULTS: Of the 128 cases studied, only 44% of cases had a justifiable reason for obtaining the hemoglobin electrophoresis, whereas the remaining 56% of cases did not have an acceptable indication for obtaining the test. CONCLUSIONS: We conclude that hemoglobin electrophoresis is overutilized in our academic medical center and we recommend consultation with clinical pathologists prior to ordering such tests.


Assuntos
Centros Médicos Acadêmicos , Hemoglobinopatias/diagnóstico , Sobremedicalização , Atenção Terciária à Saúde , Feminino , Humanos
6.
Int J Lab Hematol ; 41(5): 650-656, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31271507

RESUMO

INTRODUCTION: Thalassemias and hemoglobinopathies are the most prevalent inherited anemias detected in South East Asians. These disorders represent not only a clinical health problem but also a socioeconomic problem for this region. Regarding the prevention and control of thalassemias and hemoglobinopathies in the Lao PDR, screening and diagnostic strategies should be strongly considered. The knowledge about the prevalence and molecular genotyping of thalassemias and hemoglobinopathies among the Lao Loum group, which includes the majority of Lao people, is now limited, making the prevention and control of thalassemias difficult. METHODS: This study aimed to determine the prevalence of thalassemia among Lao Loum subjects of reproductive age. Multiplex gap PCR and direct sequencing were used to investigate the mutations of α-globin and ß-globin genes. RESULTS: Thalassemias and hemoglobinopathies were detected in 154 of 354 (43.50%) patients, and 22 different genotypes were identified in this cohort. Remarkably, high frequencies of hemoglobin E, α0 -thalassemia (--SEA ), and α+ -thalassemia (-α3.7 ) were noted. A variety of hematologic features was observed, including co-inheritance of heterozygous HbE and heterozygous α-thalassemia, which was associated with significantly lower levels of MCV and MCH values than those observed in typical HbE heterozygotes. Female participants who were heterozygous for ß0 or co-inheritance of heterozygous ßE with heterozygous α-thalassemia exhibited mild anemia. CONCLUSION: Our data show that thalassemias and hemoglobinopathies have become health problems imposing a serious burden in the Lao PDR. Prevention programs aimed at decreasing the incidence of severe thalassemia diseases should be designed and initiated.


Assuntos
Hemoglobina E/genética , Hemoglobinopatias/genética , Mutação , alfa-Globinas/genética , Talassemia alfa/genética , Talassemia beta/genética , Adolescente , Feminino , Frequência do Gene , Testes Genéticos/métodos , Genótipo , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/epidemiologia , Humanos , Laos/epidemiologia , Masculino , Prevalência , Adulto Jovem , Talassemia alfa/diagnóstico , Talassemia alfa/epidemiologia , Talassemia beta/diagnóstico , Talassemia beta/epidemiologia
7.
Hemoglobin ; 43(3): 166-173, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31272240

RESUMO

Iran, as a country located in the Thalassemia Belt, has made great progress in thalassemia prevention and treatment. The thalassemia prevention program was implemented in 1995 and the country-wide thalassemia treatment network, consisting of 64 medical universities and faculties, is active. The acknowledgment of the status of thalassemia treatment and prevention in Iran can be of significance to researchers of the countries affected with thalassemia. In the present research, the database of the Treatment Deputy Office of the Ministry of Health, Treatment and Medical Education and that of the Hemovigilance Network of the Iranian Blood Transfusion Organization, were used. The data were analyzed using the Statistical Package of the Social Sciences, version 23. The findings show 90.13% reduction in the expected cases of new ß-thalassemia (ß-thal) births in 2015. Moreover, out of 18,983 hemoglobinopathy patients, 17,342 are ß-thal major (ß-TM) and ß-thal intermedia (ß-TI) patients covered by 198 medical centers. Out of the total number of blood donations in Iran, 19.17% are allocated to thalassemia treatment. Iran has reached an acceptable level of success in thalassemia prevention and the preparation of safe and adequate blood. Iran's achievements can be adapted to other developing countries, particularly in the Middle East.


Assuntos
Talassemia beta/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Criança , Pré-Escolar , Gerenciamento Clínico , Feminino , Geografia Médica , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/epidemiologia , Hemoglobinopatias/prevenção & controle , Hemoglobinopatias/terapia , Humanos , Lactente , Irã (Geográfico)/epidemiologia , Masculino , Pessoa de Meia-Idade , Prevalência , Vigilância em Saúde Pública , Sistema de Registros , Adulto Jovem , Talassemia beta/diagnóstico , Talassemia beta/prevenção & controle , Talassemia beta/terapia
8.
Dtsch Med Wochenschr ; 144(11): 719-723, 2019 06.
Artigo em Alemão | MEDLINE | ID: mdl-31163468

RESUMO

Improvement of care for thalassemia during previous decades focussed on the development of new diagnostic and treatment modalities concerning secondary hemochromatosis resulting from symptomatic treatment with regular transfusion. In addition, hematopoetic stem transplantation as the so far only curative approach had been developed and constantly improved. New approaches for the treatment of thalassemias already entering clinical practice include e. g. additive gene therapy and medical treatment with new drugs like luspatercept. For sickle cell disease, a variety of treatment approaches either to correct the genetic change by gene therapy, to affect the underlying mechanism of sickling e. g. by R-state- stabilising agents, or later the pathophysiology of vaso-occlusive complications e. g. by inhibiting selectins are currently thoroughly investigated and some of them will probably get approval very soon.


Assuntos
Hemoglobinopatias , Antioxidantes/uso terapêutico , Antidrepanocíticos/uso terapêutico , Transfusão de Sangue , Terapia Genética , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/terapia , Humanos
9.
Orphanet J Rare Dis ; 14(1): 120, 2019 05 30.
Artigo em Inglês | MEDLINE | ID: mdl-31146777

RESUMO

Sickle cell disease (SCD) is an inherited red blood cell disorder caused by a structural abnormality of hemoglobin called sickle hemoglobin (HbS). Clinical manifestations of SCD are mainly characterized by chronic hemolysis and acute vaso-occlusive crisis, which are responsible for severe acute and chronic organ damage. SCD is widespread in sub-Saharan Africa, in the Middle East, Indian subcontinent, and some Mediterranean regions. With voluntary population migrations, people harboring the HbS gene have spread globally. In 2006, the World Health Organization recognized hemoglobinopathies, including SCD, as a global public health problem and urged national health systems worldwide to design and establish programs for the prevention and management of SCD. Herein we describe the historical experience of the network of hemoglobinopathy centers and their approach to SCD in Italy, a country where hemoglobinopathies have a high prevalence and where SCD, associated with different genotypes including ß-thalassemia, is present in the native population.


Assuntos
Anemia Falciforme/prevenção & controle , Gerenciamento Clínico , Anemia Falciforme/diagnóstico , Anemia Falciforme/metabolismo , Doenças Hematológicas/diagnóstico , Doenças Hematológicas/metabolismo , Doenças Hematológicas/prevenção & controle , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/metabolismo , Hemoglobinopatias/prevenção & controle , Humanos , Hidroxiureia/metabolismo , Itália , Saúde Pública
10.
Hemoglobin ; 43(1): 56-59, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31060398

RESUMO

Unstable hemoglobins (Hbs) are often overlooked in the differential diagnoses of drug-induced hemolysis. Hb Peterborough [ß111(G13)Val→Phe; HBB: c.334G>T] is a rare unstable Hb variant, predominantly found in individuals of Italian descent, due to a structural defect involving a single amino acid substitution (phenylalanine for valine at position 111 of the ß-globin chain). Unstable Hb variants are often inherited in the heterozygous state with Hb A (α2ß2) and rarely in compound heterozygosity with other Hb variants. The presence of another variant Hb often alters the phenotype, occasionally resulting in more severe disease. Using a combination of molecular techniques; multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing, we identified a compound heterozygosity for Hb Peterborough and Hb Lepore-Boston-Washington (Hb LBW) [δ87, ß116; NG_000007.3: g.63632_71046del] in a middle-aged gentleman with a history of chronic microcytic anemia and splenomegaly, presenting with severe drug-induced hemolysis, which was managed conservatively. The clinical history and presentation reflect the dual pathology due to the presence of two variant Hbs and their associated phenotypes. In this article, we discuss the phenotype resulting from the interaction of Hb Peterborough and Hb LBW and emphasize the importance of molecular testing in the diagnosis of rare Hb variants.


Assuntos
Anemia Hemolítica/etiologia , Hemoglobinopatias/complicações , Hemoglobinopatias/genética , Hemoglobinas Anormais/genética , Heterozigoto , Mutação , Globinas beta/genética , Alelos , Substituição de Aminoácidos , Anemia Hemolítica/sangue , Anemia Hemolítica/diagnóstico , Antibacterianos/efeitos adversos , Antibacterianos/farmacologia , Antibacterianos/uso terapêutico , Análise Mutacional de DNA , Suscetibilidade a Doenças , Hemoglobinopatias/sangue , Hemoglobinopatias/diagnóstico , Hemólise , Humanos , Masculino , Pessoa de Meia-Idade
12.
Rinsho Ketsueki ; 60(3): 213-217, 2019.
Artigo em Japonês | MEDLINE | ID: mdl-31068518

RESUMO

More than 1,200 hemoglobin variants are identified worldwide, and approximately 200 variants are detected in one of 3,000 Japanese people. Most of these patients are asymptomatic; however, some patients had hemolytic anemia or cyanosis. Herein, we report a case of a 49-year-old woman with prolonged fatigability after experiencing symptoms of common cold and intermittent brown urine. Her clinical data showed mild hemolysis, a disparity between SpO2 (93%) and pO2 (85.2 mmHg), and abnormally low HbA1c levels (3.7%). These findings lead to the diagnosis of unstable hemoglobin variant, Hb Hirosaki. A simple series of tests using pulse oximetry, an arterial blood gas analysis, measurement of HbA1c levels, or identifying the HPLC chromatogram of HbA1c can be the factors associated with the diagnosis of hemoglobinopathy.


Assuntos
Hemoglobina A Glicada/análise , Hemoglobinopatias/diagnóstico , Hemoglobinas Anormais/análise , Oxigênio/sangue , Feminino , Humanos , Pessoa de Meia-Idade , Oximetria
13.
Indian J Pathol Microbiol ; 62(2): 323-325, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30971568

RESUMO

Alpha globin chain variants per se do not cause severe morbidity and mortality but can modify - usually ameliorate - the clinical manifestations of beta globin chain variants when co-inherited with the latter. They also pose challenges in interpretation of high-performance liquid chromatography histograms and require molecular analysis for proper characterization. Hemoglobin (Hb) Fontainebleau is a rare alpha globin chain variant [alpha 21(B2) Ala→Pro], of which only three families have been reported from India in the past. Here, we describe a case of Hb fontainebleau detected in heterozygous condition in a 19-year-old primigravida. Her husband was found to have a double heterozygous state for HbQ India and beta-thalassemia trait. This opens up the possibility of multiple combinations of hemoglobinopathies in the offspring.


Assuntos
Variação Genética , Hemoglobinopatias/diagnóstico , Hemoglobinas Anormais/genética , Heterozigoto , Cônjuges , alfa-Globinas/genética , Anormalidades Múltiplas , Feminino , Genótipo , Hemoglobinopatias/genética , Humanos , Mutação , Gravidez , Diagnóstico Pré-Natal , Adulto Jovem
14.
J Infect Public Health ; 12(4): 585-590, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30808594

RESUMO

BACKGROUND: Hemoglobinopathies (HgP) are prevalent in certain regions of the world. The World Health Organization estimated that 5% of the world's population is a carrier of the potentially pathological hemoglobin (Hb) gene. METHODS: This study aimed to compare the performance of fluorescence spectroscopy, a simple and inexpensive method, with that of conventional techniques for diagnosing thalassemia. The red blood cell (RBC) counts and levels of Hb, HbA, HbA2, and HbS were estimated via conventional methods of complete blood count and Hb electrophoresis to diagnose thalassemia. RESULTS: The RBCs and Hb, particularly the average values of HbA and HbA2, were lower in patients with thalassemia than in the normal controls. These hematologic parameters were also analyzed via fluorescence spectroscopybased on fluorescent biomolecules including tyrosine (275 nm), tryptophan (290 nm), nicotinamide adenine dinucleotide (NADH) (370 nm), flavin adenine dinucleotide (FAD) (450 nm), and porphyrin (585-635 nm). In thalassemia patients, all these parameters were above the normal range, primarily due to abnormal depression of NADH and elevation of FAD. CONCLUSION: Thalassemia canbe diagnosed via a fluorescent spectral method with an accuracy of 85% for blinded groups. This method may be useful for screening patients and reducing the cost of diagnosis in many rural countries.


Assuntos
Contagem de Células Sanguíneas , Eletroforese , Hemoglobinas/análise , Espectrometria de Fluorescência , Talassemia/diagnóstico , Adulto , Estudos de Casos e Controles , Eritrócitos , Feminino , Hemoglobinopatias/diagnóstico , Humanos , Masculino , Estudos Prospectivos , Arábia Saudita
15.
Am J Hematol ; 94(5): 597-603, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30690774

RESUMO

Altered oxygen affinity variant hemoglobins (Hbs) are caused by mutations of the globin genes. Changes in Hb oxygen affinity shift the oxygen dissociation curve, and can be identified by abnormal p50 measurements of patient red blood cells. Variants are categorized as either low oxygen affinity (high p50) or high oxygen affinity (low p50). Accurate diagnosis requires recognition of typical clinical and laboratory findings. In this case-based review, we present two patients with altered oxygen affinity variants, illustrating barriers to prompt and accurate diagnosis, and issues in management. We then review pathophysiology, diagnostic tests, clinical features, and management strategies.


Assuntos
Hemoglobinopatias , Hemoglobinas Anormais , Mutação , Oxigênio/sangue , Adulto , Feminino , Hemoglobinopatias/sangue , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/genética , Hemoglobinas Anormais/genética , Hemoglobinas Anormais/metabolismo , Humanos , Masculino
17.
Saudi Med J ; 39(12): 1226-1231, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30520505

RESUMO

OBJECTIVES: To assess the knowledge and attitude toward hemoglobinopathies premarital screening (PMS) program among unmarried population in Jeddah, Kingdom of Saudi Arabia. METHODS: A cross-sectional study was conducted among 1039 unmarried males and females from the general population who fulfilled the eligibility criteria. Data was collected from July-December 2017, using an electronic questionnaire to assess the socio-demographic data, knowledge and attitudes of the participants regarding PMS. Results: Approximately half of the participants had poor knowledge scores (51.1%), while 28.4% of them had fair and 20.5% had good scores. Individuals with an educational level of "university degree and above" had significantly higher knowledge than  those with lower educational levels. Furthermore, 60.4% of the participants had a positive attitude toward PMS. The data was analyzed using the Statistical Package for the Social Sciences (SPSS) Version 21 (IBM Corp., Armonk, NY, USA); and a Chi-squared test was used for comparisons between proportions and a p-value ≤0.05 was considered significant. Conclusion: Participants showed a lack of knowledge regarding PMS but they had a positive attitude towards the program. More efforts are required to raise awareness in the public regarding PMS, via social media and educational lectures in schools and universities. Additionally, early genetic screening may help improve test acceptance and higher impact.


Assuntos
Conhecimentos, Atitudes e Prática em Saúde , Hemoglobinopatias/diagnóstico , Exames Pré-Nupciais , Pessoa Solteira , Adulto , Estudos Transversais , Escolaridade , Feminino , Humanos , Masculino , Arábia Saudita , Inquéritos e Questionários , Adulto Jovem
18.
Hemoglobin ; 42(4): 278-280, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30486690

RESUMO

Despite the milder clinical severity of Hb H patients compared with those of Hb Bart's hydrops fetalis or patients with ß-thalassemia major (ß-TM), a few cases of Hb H hydrops fetalis syndrome have been reported so far. Here, we describe, for the first time in the Chinese population, one case of a neonate with Hb H hydrops fetalis syndrome caused by the - -SEA (Southeast Asian) deletion in combination with the Hb Hirosaki (HBA2: c.132C>G, p.Phe43Leu) mutation. Our study highlights the importance of continuous fetal monitoring using ultrasonography and blood screening studies of fetuses. Appropriate genetic counseling and comprehensive clinical follow-up should be performed on a pregnant woman who carried an α0-thalassemia (α0-thal) deletion and had a Hb H or Hb Bart's hydrops fetalis offspring, especially if the woman's partner also carried a hemoglobinopathy.


Assuntos
Hemoglobinas Anormais/genética , Hidropisia Fetal/genética , Mutação , Deleção de Sequência , Grupo com Ancestrais do Continente Asiático , Feminino , Aconselhamento Genético , Hemoglobinopatias/diagnóstico , Humanos , Gravidez , Diagnóstico Pré-Natal/métodos
20.
Pediatr. catalan ; 78(3): 111-113, jul.-sept. 2018. graf
Artigo em Catalão | IBECS | ID: ibc-174675

RESUMO

Introducció: Avui en dia hi ha més de mil variants de l'hemoglobina conegudes i probablement encara en resten moltes per conèixer. De vegades poden donar lloc a hemoglobines inestables que provoquen hemòlisi, alteracions en l'afinitat per l'oxigen, o poden no alterar la funció de la molècula, però sí ser causa de lectures anòmales per pulsioximetria, una eina molt estesa avui en dia en la nostra pràctica diària. Cas clínic: Presentem el cas d'un pacient asimptomàtic sense antecedents, del qual, a partir d'una falsa baixa saturació d'oxigen detectada per pulsioximetria al servei d'urgències, arribem al diagnòstic d'hemoglobinopatia tant del pacient com d'un dels seus familiars més propers. Comentari:. Cal conèixer les limitacions d'una eina tan utilitzada en la pràctica diària habitual com és el pulsioxímetre, així com considerar les variants de l'hemoglobina dintre del diagnòstic diferencial de la hipoxèmia, sobretot en el pacient asimptomàtic


Introducción: Hoy en día existen más de mil variantes de la hemoglobina conocidas y probablemente hay muchas más que están aún por conocer. En ocasiones, éstas pueden dar lugar a hemoglobinas inestables que producen hemólisis, alteraciones en la afinidad por el oxígeno, o pueden no alterar la función de la molécula, pero sí ser causa de lecturas anómalas por pulsioximetría, una herramienta muy extendida hoy en día en nuestros servicios de urgencias. Caso clínico: Presentamos el caso de un paciente asintomático y sin antecedentes del cual, a partir de una falsa baja saturación de oxígeno detectada en el servicio de urgencias, llegamos al diagnós-tico de variante de la hemoglobina, tanto en el paciente como en uno de sus familiares más cercanos. Comentarios: A raíz de este caso, el objetivo es hacer hincapié en la importancia de conocer las limitaciones de una herramienta tan extendida como el pulsioxímetro, así como en el hecho de considerar las hemoglobinopatías dentro del diagnóstico diferencial de la hipoxemia


Introduction: Currently, there are more than 1,000 known hemog-lobin variants and probably more variants that have yet to be identified. Some variants can result in unstable hemoglobin causing hemolysis and alterations in the oxygen affinity, or can also result in abnormal readings by pulse oximetry without any alteration in their function. Case report: We present the case of an asymptomatic patient and with no relevant personal or family medical history who was diagnosed with a hemoglobin variant after an abnormal reading in a pulse oximeter. Comments: This case highlights the importance of acknowledging the limitations of pulse oximetry, as well as the need to consider hemoglobinopathies in the differential diagnosis of hypoxemia, particularly in the asymptomatic patient


Assuntos
Humanos , Masculino , Criança , Hemoglobinopatias/diagnóstico , Hipóxia/diagnóstico , Oximetria/métodos , Oxigênio/sangue , Hemoglobinopatias/fisiopatologia , Hemoglobinas/classificação , Hemoglobinas Anormais/análise , Diagnóstico Diferencial , Hematócrito/estatística & dados numéricos , Gasometria
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