Tag Archives: anaemia

Case 99 – Summary

Thank you for your contribution in our #TeamHaem case this week. This week we have been looking at Diamond Blackfan anaemia (DBA). This is a rare, genetically and clinically heterogeneous, inherited red cell aplasia. It is one of the Inherited … Continue reading

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Case 99 – update 5

Genetic testing on both parents and her brother are carried out and are all negative. Hence this is a de novo mutation of RPL5 in our little girl. You also carry out HLA typing on her and her brother, who … Continue reading

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Case 99 – update 4

Based on a diagnosis of Diamond Blackfan anaemia, a decision is made to start a regular transfusion programme until she is over 1 year of age to minimise the impact of steroids on her growth. It will also allow her … Continue reading

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Case 99 – update 3

A bone marrow biopsy has been carried out: (see below) Aspirate shows erythroid hypoplasia but no dysplastic features. Cellularity is normal and megakaryocyte & granulocyte lineages are normal. For interest, also see Trephine IHC with Glycophorin-C staining – demonstrating reduced … Continue reading

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Case 99 – update 2

A blood film has been looked at, no specific findings are noted except for anaemia and occasional spherocytes. There are no red cell fragments, no dysplastic features and no primitive cells. EMA & G6PD are in progress. Parvovirus B19 serology … Continue reading

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Case 99 – update 1

You call Mum and repeat the baby’s blood count urgently. Her repeat bloods show: Hb 63g/L Platelet 506 x 10^9 MCV 99.9fL, WBC 9.36x 10^9 Neutrophil 3.46 x 10^9 You explain to Mum that her baby is anaemic and you … Continue reading

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Case 99 – the beginning

Welcome to our new #TeamHaem case. You are working in General practice. You see a 9 month old baby girl in the morning. Her mother tells you that in recent weeks she has needed more naps and has not been … Continue reading

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Case 96 – summary

Thank you for participating in our case this week. This week we have been looking at a case of JMML (Juvenile myelomonocytic leukaemia), which is a rare clonal haematopoietic disorder of childhood, characterised by the proliferation of granulocytic and monocytic … Continue reading

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Case 96 – update 4

The haematology team has now taken over his care. Bone marrow aspirate has demonstrated a hypercellular marrow with left shift, and there are increased myeloid and monocyte lineages. Blast count is about 4%. There is occasional evidence of haemophagocytosis and … Continue reading

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Case 96 – update 3

The blood film has been reported: – leukocytosis with neutrophilia and monocytosis, there is left shift and toxic granulation and vacuolation. Occasional primitive cells ~ 2%. No nucleated RBCs. The appearances might be reactive/infection related, and infection as well as … Continue reading

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Case 96 – update 2

An USS abdomen has been performed which confirms mild hepato-splenomegaly. CXR was reported as normal. Faecal elastase, TTG, TFTs, ILGF1 all normal. You phone the haematology registrar to look at the blood film in view of the abnormal FBC. Questions: … Continue reading

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Case 96 – update 1

This 13 month old boy was born at 39/40 by normal delivery. His birth weight was 2.6kg. He is normally fit and well with no significant problems and no previous hospital admissions. He is up to dates with all his … Continue reading

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Case 90 – summary

We started with a 74 year old gentleman who was admitted with weight loss, fatigue and change in bowel habit. A mass in the right iliac fossa was palpated and a colonic malignancy was suspected. He had thrombocytosis with microcytic indices … Continue reading

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Case 90 – update 4

Here is the antibody panel. Can you identify the antibody?  

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Case 90 – update 3

Our patient is one week post two units of blood and his haemoglobin is back to baseline and has hyperbilirubinaemia. LDH is elevated and haptoglobins are absent. Blood film shows spherocytes. Here is the antibody screen Questions (For fun!) can … Continue reading

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Case 90 – update 2

Our patient is treated for potential pulmonary oedema associated with blood transfusion (transfusion-associated circulatory overload). The differential was TRALI but given its rarity and the patient’s observations (hypertension and a positive fluid balance) TACO was felt to be more likely. … Continue reading

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Case 90 – update 1

Our patient has deteriorated towards the end of a two unit transfusion. He is short of breath and more hypoxic compared to previous. Observations are below:   Before unit one Towards end unit two Pulse 72bpm 98bpm Blood pressure 100/70mmHg … Continue reading

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Case 90 – the beginning

A 74 year old male is admitted to hospital with weight loss, fatigue and change in bowel habit. He is pale and a mass is palpated in the right iliac fossa. A full blood count is performed: Hb 72g/l MCV … Continue reading

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Case 89 – summary

  Thank you for all of the contributions with Case 89 where we encountered a fit 64 year old who presented with progressive anaemia and leucocytosis over the past 6 months. He also had associated weight loss of 0.5 stones … Continue reading

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Case 89 – update 2

Thank you for everyone’s contributions so far! Update of investigation results as requested: Bone marrow trephine: myelofibrosis. BM cytogenetics: monosomy 7 Peripheral blood: JAK2 positive. No circulating blasts identified on blood film. USS abdo: 16cm spleen (Hb 95, Plts 90, … Continue reading

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