Ampath Laboratories DxINSIGHTS - Issue 2 - Feb 2023

Introduction

When abnormal may be normal: Approach to benign ethnic Neutropaenia

A full blood count (FBC) forms part of routine annual health maintenance testing for many patients. The components of a FBC include leukocyte counts (neutrophils, lymphocytes, eosinophils and basophils), haemoglobin levels and platelet counts. Neutropaenia is defined as a reduction in the absolute number of circulating neutrophils, taking into account that normal neutrophil counts may vary according to age and ethnicity. Isolated neutropaenia without accompanying anaemia or thrombocytopenia is a common clinical problem.

Too much of a good thing: Hereditary Haemochromatosis

Hereditary haemochromatosis (HC) is a genetically heterogeneous disorder characterised by uncontrolled intestinal iron absorption, which can lead to progressive iron deposition and potentially life-threatening complications. Hereditary haemochromatosis is caused by mutations in at least five genes, resulting in either hepcidin deficiency or resistance to hepcidin. This article will briefly discuss HC in terms of clinical presentation, diagnosis and management.

Test in Focus

Genetic testing for hereditary haemochromatosis

Hereditary haemochromatosis (HC) is an autosomal recessive disorder characterised by hepcidin deficiency or resistance, resulting in uncontrolled intestinal iron absorption. If left undiagnosed, HC may lead to iron overload complicated by multi-organ damage, including diabetes, heart failure, hepatic cirrhosis, hepatocellular carcinoma and arthritis.

Test in Focus

Factor v leiden: A common Caucasian cause of clotting

Thrombophilia entails an increased propensity to thrombosis and may be acquired or inherited. Ampath offers a thrombophilia screen, a component of which is testing for Factor V Leiden (FVL).

Fault in function or form: 

Haemoglobinopathies

Haemoglobin (Hb) is the major protein in a red blood cell. It is made up of heme (the iron-containing portion) and globin chains (which are proteins). There are different types of globin chains: alpha, beta, delta and gamma, which form different haemoglobins. In adults, a major haemoglobin is haemoglobin A (HbA). Haemoglobin A comprises on average 97% of all haemoglobin and minor components include haemoglobin A2 and haemoglobin F.

Seeing red: A basic approach to Anaemia

According to the World Health Organization (WHO), anaemia is defined as a condition in which the number of red blood cells or their oxygen-carrying capacity is insufficient to meet physiological needs.1 The diagnosis relies on the requisition of a full blood count (FBC), which will reveal a decrease in one or more of the major red blood cell measurements: haemoglobin (Hb), haematocrit, or red blood cell (RBC) count.