Unstable haemoglobin Koln disease in members of a Malay family.

Eng, Lie‐Injo Luan; Lopez, C. G.; Eapen, J. S.; Eravelly, J.; Wiltshire, B.; Lehmann, H.

doi:10.1136/jmg.9.3.340

Cited by 11 publications

(1 citation statement)

References 9 publications

(8 reference statements)

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“…On Köln haemoglobinopathy thrombocytopenia is a consequence of splenic sequestration 12 . The elevated activity of Pyruvate kinase and glucose-6-phosphate dehydrogenase, may be due to the expansion of the youthful population of erythrocytes 13 . Köln haemoglobinopathy interferes with the assay of HbA 1 c, as can be seen in case 3 in which HbA 1 c 2.8% was documented 8 .…”

Section: Discussionmentioning

confidence: 99%

Discrepancia entre SpO2 y SaO2 al diagnóstico de cuatro generaciones

Lucas¹,

Santos²,

Alfaiate³

et al. 2021

Gal. Clin.

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Pulse oximetry measures the peripheral oxy-haemoglobin saturation (SpO2) which is a surrogate marker for arterial oxy-haemoglobin saturation (SaO2). SaO2 estimation is subjected to both oximeter proper functioning, patient characteristicsand haemoglobin disturbances. A 82-year-old man goes to the emergency with cough, dyspnoea and fever. He has haemolytic anaemia. His kids also have anaemia. Examination showed fine crackles in pulmonary auscultation of the lower two thirds of the right lung and splenomegaly. SpO2 was 80% (FiO2 21%). Arterial blood gas analysis: pH 7.514; PaCO2 23.4 mmHg; PaO2 43.2 mmHg; Hb 13.0 g/dL. Chest X-ray suggested an infectious process. He was admitted to the hospital with the diagnosis of pneumonia. During hospitalization we verify discrepancy between SpO2 and SaO2; haemolytic anaemia. The patient had a respiratory improvement and was discharged to external consult, dying months later. To clarify the discrepancy between SpO2 and SaO2 results; confirm the hereditary nature and identify the haemolytic anaemia, we conducted a retrospective familiar study based on the patient's clinical processes. Three children were identified with anaemia. Two of the children have known their anaemia for 35 years -studied in the context of respiratory infections with haemolytic crisis due to Lepore haemoglobinopathy and β-thalassemia, respectively. The patient previously diagnosed with Lepore haemoglobinopathy, currently undergoing hospital anaemia study, was diagnosed with Köln Hb. The discrepancy between SpO2 and SaO2 in association with a familiar haemolytic anaemia resulted in the diagnosis of autosomal dominant Köln haemoglobinopathy. The advances in the means of diagnosis enabled the probable diagnosis of 19 family members distributed over 4 generations.

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Section: Discussionmentioning

confidence: 99%

Discrepancia entre SpO2 y SaO2 al diagnóstico de cuatro generaciones

Lucas¹,

Santos²,

Alfaiate³

et al. 2021

Gal. Clin.

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Hb leiden‐β° thalassemia in a chinese with severe hemolytic anemia

et al. 1977

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The first case of Hb Leiden (alpha2beta2 6 or 7 Glu---O)-beta (0) thalassemia in a young patient with chronic severe hemolytic anemia, which improved after splenectomy, is described. His parents were Chinese. The patient's blood showed no Hb A or normal beta chains when no blood transfusion was given. His mother was heterozygous for beta(0) thalassemia, and his father and brother had a trait for the unstable Hb Leiden. The Hb Leiden level of the father was 22.6% and that of the brother was 19.3%. It is probable that the abnormal hemoglobin in this Chinese family resulted from an independent gene mutation, unrelated to the one found in 2 Caucasian families reported earlier.

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