Pathophysiology

Hemoglobinopathyblood disorders or hemoglobinopathies is an inherited conditionexperienced by various people around the world. Alpha thalassemia ischaracterized by a single gene disorder that influences thefunctioning and production of hemoglobin in the body. It is one ofthe primary classes of hemoglobinopathies (Alsaeed, 2012). Thisresearch paper tries to examine the prevalence, population affected,and diagnostic criteria of α-thalassemia (Alpha thalassemia).

Alphathalassemia is caused by an autosomal recessive gene which is themost common inheritance pattern across the world of the condition.There are two phenotypes of α-thalassemia namely hemoglobin H (HbH)disease and hemoglobin Bart hydrops fetalis syndrome. From theclinical description, it means that the disease is passed to childrenby their carrier parents who have the mutated globin gene (Cappellini&amp Motta, 2015). Additionally, the disease exposes individuals toa lifelong hemolytic anemia. The condition is often lethal amongchildren and early infancy and if left unobserved, can lead toimmediate death (Alsaeed, 2012). According to the case presentation,J.L.’s condition worsened despite having undergone splenectomy. Itmay be attributed to the extent of his alpha globin chain defect.There is a high likelihood that infants diagnosed with homozygous orcompound heterozygous for the highly stable α-globin variation willonly reach the age of 20 because of splenic and sepsis sequestration(Origa, Moi, Galanello &amp Cao, 2013). Moreover, they are likely tocontract HbH disease if it is not detected early. J.L.’s ongoingdiagnosis has opened up opportunities for other conditions such asgout and jaundiced sclera.

Therehas been underestimation of the prevalence of alpha-thalassemia inthe past because the medical practitioners used the percentage ofhemoglobin Bart in cord blood (Origa et al., 2013). The method ofmeasuring prevalence in the society provided skewed results since notall of the newborns with α-thalassemia have an increased hemoglobinBart. Africa has the highest incidences of the disease which has beenobserved in countries such as Kenya, Nigeria, and Ivory Coast.However, there are known cases in India, Southern Europe, Oceania andthe Middle East (Origa et al., 2013). A high prevalence of thecondition exists especially among individuals with low socioeconomicstatus in the society (Kohne, 2011). The disorders are mainly spreadby infections such as hookworms, malaria, and schistosomiasis(McCance &amp Huether, 2015).

Onthe other hand, thalassemia disease is whereby there is deficient orno synthesis of normal globin chains in the body. The primary causeof the inadequate synthesis is due to the iron overload and otherinfections brought by splenectomy (Alsaeed, 2012). The excessive ironin the body may be attributed to depositions resulting fromactivities such as blood transfusion and an increase in the rate ofgastrointestinal absorption (Origa et al., 2013). J.L.’s history ofgout and jaundiced sclera may have been contributed by the ironoverload in the body. Alpha-thalassemia conditions unveil the burdenof anemia in the aging population (McCance et al., 2015). With theincrease in age, the disease is likely to worsen because itcontributes to morbidities such as frailty, dementia, mortality, andfrequent hospitalization (Cappellini et al., 2015).

Thediagnostic criterion of α-thalassemia involves a routine checkup ofthe red blood cells (RBC). Medical practitioners use the hemoglobintest and erythrocyte indices as a measuring technique for thecondition (Kohne, 2011). The tests include hemoglobin electrophoresisor chromatography. Additionally, there have to be specialized testsfor thalassemia syndromes and structural hemoglobin variants.Thalassemia syndromes are characterized by symptoms such as mild andmicrocytic anemia among the heterozygous carriers and severehypochromic anemia among the homozygous carriers (Kohne, 2011).

Inconclusion, it should be noted that the lifespan and quality of lifeof the patients can be improved if the conditions are diagnosedearly. The improved and sophisticated treatment methods have ensuredthat people with the diseases have the ability to lead a normal life.

References

Alsaeed,A. H. (2012). Prevalence of hemoglobinopathy disorders in adultpatients sent for diagnosis of anemia in Saudi Arabia.&nbspGenetictesting and molecular biomarkers,&nbsp16(1),25-29.

Cappellini,M. D., &amp Motta, I. (2015, October). Anemia in ClinicalPractice—Definition and Classification: Does Hemoglobin Change WithAging?. In&nbspSeminarsin hematology&nbsp(Vol.52, No. 4, pp. 261-269). WB Saunders.

Kohne,E. (2011). Clinical Manifestations, Diagnosis, andTreatment.&nbspsignificance,&nbsp5(11),12.

McCance,K. L., &amp Huether, S. E. (2015).&nbsp:The biologic basis for disease in adults and children.Elsevier Health Sciences.

Origa,R., Moi, P., Galanello, R., &amp Cao, A. (2013). Alpha-thalassemia.