Microcytic Hypochromic Anaemia and the Importance of Blood Transfusion

This patient is presenting with a microcytic hypochromic anaemia, which is commonly caused by iron deficiency due to occult gastrointestinal (GI) blood loss in a Caucasian population. To determine the cause of the anaemia, a full history and examination should be conducted to look for clues of GI blood loss. Given the microcytic hypochromic picture, it is likely that blood loss has been ongoing for some time.

Although there is no evidence of haemodynamic compromise or congestive cardiac failure (CCF), the patient is experiencing breathlessness on minimal exertion. This justifies an upfront transfusion to prevent the patient from going into obvious cardiorespiratory failure. At a Hb of 64 g/L in a 72-year-old, the benefits of transfusion outweigh the risks.

While haematinics such as ferritin, vitamin B12, and folate are important investigations, the most crucial management step is organising a blood transfusion. This will help to address the immediate issue of anaemia and prevent further complications.

An acute haemolytic reaction is a transfusion complication that can occur within 24 hours of receiving blood. It is often caused by ABO/Rh incompatibility and can result in symptoms such as agitation, fever, low blood pressure, flushing, pain in the abdomen or chest, bleeding from the site of the venepuncture, and disseminated intravascular coagulation (DIC). Treatment involves stopping the transfusion immediately. Iron overload, hepatitis B infection, graft-versus-host disease (GvHD), and human immunodeficiency virus (HIV) infection are all delayed transfusion reactions that may present after 24 hours.

Pigment Gallstones and High Haem Turnover

In cases of chronic haemolysis, such as sickle cell disease or thalassaemia, the presence of unconjugated bilirubin in bile can lead to the formation of pigment gallstones. These stones are black in color and are caused by the precipitation of calcium bilirubinate from solution. The high concentration of unconjugated bilirubin in bile is a result of the increased turnover of haemoglobin. This can cause pain and discomfort for the patient. It is important to manage the underlying condition causing the high haem turnover to prevent the formation of pigment gallstones.

Treatment Options for Non-Haemolytic Febrile Transfusion Reaction

Non-haemolytic febrile transfusion reaction is a common acute reaction to plasma proteins during blood transfusions. If a patient experiences this reaction, the transfusion should be temporarily stopped, and clerical checks should be repeated. The patient should be treated with paracetamol, and observations should be repeated more regularly (every 15 minutes).

If the patient’s temperature is less than 38.5 degrees, and they are asymptomatic with normal observations, the transfusion can be continued with more frequent observations and paracetamol. However, if the patient experiences transfusion-associated circulatory overload, furosemide is a suitable treatment option.

Adrenaline is not needed unless there are signs of anaphylaxis, and antihistamines are only suitable for urticaria during blood transfusions. Therefore, it is essential to identify the specific type of transfusion reaction and provide appropriate treatment accordingly.

Follicular lymphoma is a prevalent type of non-Hodgkin’s lymphoma that results from a chromosomal translocation between chromosome 14 and chromosome 18. This translocation causes the bcl-2 protein, which is anti-apoptotic, to be moved to the IgH promoter region, leading to overproduction of bcl-2. Consequently, abnormal B cells undergo clonal proliferation and are protected from apoptosis. Follicular lymphoma affects both genders equally, and its incidence increases with age. The disease typically presents with painless adenopathy that progresses over time. Systemic symptoms, such as fevers, night sweats, and weight loss, may occur later in the disease progression and can be associated with anaemia, thrombocytopenia, and lymphocytosis. Diagnosis requires a lymph node biopsy to demonstrate the expansion of follicles filling the node and chromosomal analysis of cells from bone marrow aspiration to detect t(14:18). Chemotherapy is the primary treatment, and rituximab, a monoclonal antibody against the CD20 protein found on B cells, is often used in combination with other agents. In Burkitt’s lymphoma, c-myc overexpression is caused by a translocation between chromosomes 8 and 14, while chronic myeloid leukaemia results from a translocation between chromosomes 9 and 22, forming the Philadelphia chromosome. Ewing’s sarcoma is caused by a translocation between chromosomes 11 and 12, leading to the formation of the fusion protein Ewsr1-fli1, which causes aberrant transcription of genes regulating cell growth and development. In a small subset of follicular lymphoma patients, translocations involving the bcl-6 gene and protein are found, which may increase the risk of transformation to a more aggressive form.

Understanding Different Causes of Haemolytic Anaemia

Haemolytic anaemia is a condition where red blood cells are destroyed faster than they can be produced, leading to a shortage of oxygen-carrying cells in the body. There are various causes of haemolytic anaemia, including phosphatidylinositol glycan A defect, vitamin B12 deficiency, glucose-6-phosphate dehydrogenase deficiency, loss of spectrin in the red blood cell membrane, and immunoglobulin M (IgM) antibody against red blood cells.

Phosphatidylinositol glycan A defect, also known as nocturnal haemoglobinuria, is an acquired condition caused by a mutation in the gene encoding for phosphatidylinositol glycan A. This leads to an increased susceptibility of red blood cells to complement proteins in an acidotic environment, resulting in haemolysis. Patients typically present with haematuria in the morning, and treatment involves managing symptoms and using medication such as eculizumab.

Vitamin B12 deficiency causes megaloblastic anaemia and is not related to haemolysis. Glucose-6-phosphate dehydrogenase deficiency is an inherited X-linked recessive condition that results in red blood cell breakdown. Loss of spectrin in the red blood cell membrane is seen in hereditary spherocytosis, where red blood cells become spherical and are trapped in the spleen, leading to haemolysis. IgM antibody against red blood cells causes autoimmune haemolytic anaemia, where the antibody binds to the I antigen on the membrane of red blood cells, leading to haemolysis at low temperatures.

Understanding the different causes of haemolytic anaemia is crucial for proper diagnosis and treatment.

Different types of lipoproteins carry lipids and cholesterol throughout the body. Chylomicrons transport dietary lipids, VLDLs transport liver-synthesized lipids, LDLs carry cholesterol, and HDLs transport cholesterol back to the liver for breakdown. Fatty acids are broken down by pancreatic lipase and absorbed as free fatty acids and monoglycerides, which are then reformed into triglycerides and packaged into chylomicrons. The liver processes chylomicron remnants and liposomes into various lipoprotein forms, including VLDL and LDL. Apolipoproteins are proteins that bind to lipids to form lipoproteins. HDL particles remove cholesterol from circulation and transport it back to the liver. Oxidized LDL is harmful to the body and promotes atherosclerosis.

Differential diagnosis of a patient with low vitamin B12 and related symptoms

Pernicious anaemia, coeliac disease, Crohn’s disease, and multiple myeloma are among the possible conditions that may cause low vitamin B12 levels and related symptoms. Pernicious anaemia is an autoimmune disorder that affects the gastric mucosa and impairs the production of intrinsic factor, leading to vitamin B12 deficiency and anaemia. Coeliac disease is a chronic immune-mediated enteropathy that affects the small intestine and causes malabsorption of nutrients, including vitamin B12. Crohn’s disease is a chronic inflammatory bowel disease that can affect any part of the gastrointestinal tract and cause various symptoms, including diarrhoea, abdominal pain, and weight loss. Multiple myeloma is a malignant plasma cell disorder that can cause bone pain, anaemia, and other symptoms, but is less likely to present with low vitamin B12 levels as the primary feature.

The differential diagnosis of these conditions may involve various tests and procedures, such as blood tests for antibodies and vitamin B12 levels, endoscopy with biopsies of the duodenum or colon, and bone marrow examination. The specific findings on these tests can help to distinguish between the different conditions and guide further management. For example, the presence of parietal cell antibodies and intrinsic factor antibodies in the blood may support a diagnosis of pernicious anaemia, while villous atrophy and crypt hyperplasia in the duodenal biopsies may suggest coeliac disease. Transmural inflammation with granuloma formation in the colon biopsies may indicate Crohn’s disease, while plasma cell infiltration in the bone marrow may suggest multiple myeloma.

Overall, the diagnosis of a patient with low vitamin B12 and related symptoms requires a thorough evaluation of the clinical history, physical examination, and laboratory findings, as well as consideration of the possible differential diagnoses.

Specialty Departments and Diagnosis of Coeliac Disease

The patient presents with microcytic, hypochromic anaemia, Howell-Jolly bodies, and splenic dysfunction, along with low albumin and calcium suggestive of malabsorption and emaciation. The most likely diagnosis is coeliac disease, which can be confirmed by antibody tests and a duodenal biopsy in the Gastroenterology department. Haematology can investigate the abnormal blood count, but treatment is not within their scope. Chronic kidney or liver disease is less likely, and there are no neurological symptoms.

Blood Film Abnormalities and Their Significance

Blood film abnormalities can provide important diagnostic information about a patient’s health. One such abnormality is Howell-Jolly bodies, which are nuclear remnants found in red blood cells and indicate hyposplenism. Other abnormalities seen in hyposplenism include target cells, Pappenheimer cells, increased red cell anisocytosis and poikilocytosis, and spherocytes. Patients with hyposplenism are at increased risk of bacterial infections and should be vaccinated accordingly.

Rouleaux formation, on the other hand, is a stack of red blood cells that stick together, forming a rouleau. This occurs in conditions where plasma protein is high, such as multiple myeloma, some infections, Waldenström’s macroglobulinemia, and some cancers.

Schistocytes are irregular and jagged fragments of red blood cells that occur due to mechanical destruction of red blood cells in conditions such as hemolytic anemia. They are not typically seen in hyposplenism.

Tear drop cells, which are seen in conditions where there is abnormality of bone marrow function, such as myelofibrosis, are also not seen in hyposplenism.

Finally, toxic granulation occurs during inflammatory processes such as bacterial infection or sepsis and refers to neutrophils which contain dark, coarse granules. It is not present in hyposplenism.

In summary, understanding blood film abnormalities and their significance can aid in the diagnosis and management of various medical conditions.