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Haemoglobin Electrophoresis frequently called ” Hb Genotype” is not a sufficient Diagnostic tool to determine the sickle cell status of a patient. IMDA Experts
The 2023 Workshop organized by the Initiative for Medical Diagnostic Awareness (IMDA) on 11th to 13th July 2023 at the Multipurpose Laboratory of Lagos State University Teaching Hospital (LASUTH) Ikeja revealed that over reliance on the Hb Genotype test has caused a lot of hazard in the Medical Sector in Nigeria.
The theme of the Workshop “Haemoglobinopathy: Diagnosis and Misdiagnosis” was delivered by Professor Alani Sulaimon Akanmu, a renowned Professor of Haematology, Lagos University Teaching Hospital idi Araba Lagos.
Other sub-themes speakers were Mrs Florence Adefolaju who spoke on the “Parental Dispute Resolution”. Barrister Marcus Daudu presented the “Medico-legal Burden of Misdiagnosis.”
“Limitations of Automated Heamatology Machines” was delivered by Dr Toyosi Yekeen Raheem, the former President of the Association of Medical Laboratory Scientists of Nigeria (AMLSN).
A Deputy Director, Laboratory Services in Lagos University Teaching Hospital idi Araba Lagos, Mrs Ayoola Oremosu presented a paper titled “Prenatal Diagnosis of Haemoglobinopathies’
Dr Ekun Oloruntoba, an Associate Professor in the department of Medical Laboratory Science of Lagos University Teaching Hospital idi Araba Lagos took the participants round on the topic “Machines and Films readings.
The Special Guest of Honour was Prof Adedoyin Owolabi Dosumu, the Head of Department of the Heamatology and Blood Transfusion, Lagos State University Teaching Hospital (LASUTH) Ikeja.
Prof. Kolawole Oyedeji who is the Chairman of the Board of Trustees of IMDA, welcomed the participants and told them the workshop was purely practical based and that it was conceived to improve the knowledge of the participants.
The experts unanimously suggested that medical professionals should hence forth stop using the test erroneously called Hb genotype as the final diagnostic test to determine the sickle status of patients but rather encourage the use of High Performance Liquid Chromatography popularly called HPLC as the gold standard for determining Sickle cell status.
A story of a couple was told where young man who was purportedly reported to have Hb genotype of “AA” using electrophoresis
refused to accept fathering a child born and diagnosed as Hb SS using the same electrophoresis technique. The riddle was resolved using advanced technology in the medical field. If not for this advancement, the family would have been thrown into confusion and acrimony.
Also it was mentioned that caution should be taken when counseling the intending couple based on the Genotype test results.
The group advised that Heamoglobin Quantification, High Performance Liquid Chromatography/ Iso-electric Focusing and Molecular Techniques should be done.
What are haemoglobinopathies?
Haemoglobinopathies are sickle cell disease or thalassemia.
Heamoglobinopathies are a group of recessively inherited genetic conditions affecting the heamoglobin component of blood.
They are caused by a genetic change (mutation) in the haemoglobin.
More than 1000 mutations have been identified that result in either heamoglobin variants or thalassaemias.
Grouping the Genetically Determined heamoglobin variants
Structurally variant of haemoglobin such as heamoglobin S
Failure to synthesize one or more of the globin chains of heamoglobin at a normal rate, as in thalassemias
Failure to complete the normal neonatal switch from fetal heamoglobin (heamoglobin F) to adult heamoglobin (heamoglobin A). The so called Hereditary Persistence of Fetal Heamoglobin (HPFH)
The reasons for misdiagnosis were traced to technical error, limited access to appropriate diagnostic tools, inadequate knowledge to interpret results and failure to order and obtain correct laboratory test
For accuracy and precision, some of these tests should be used to complement the genotype test. The tests are full blood count with emphasis on the red indeces, peripheral Blood Film assessment, heamoglobin solubility test, heamoglobin Quantification, high Performance Liquid Chromatography/ IsoElectric Focusing and Molecular Techniques.
Presentations were made by DCL Laboratory Products Limited and Pinecrest Healthcare Limited.
Other people present at the occasion were Dr Adesola Olalekan, the Secretary of IMDA, Dr Margret O. Ibikunle of Lagos State University Teaching Hospital (LASUTH) Ikeja, Chief Augustine Ebisi, the Eze Ndigbo of Ojodu kingdom and over fifty participants.