{"id":193710,"date":"2025-02-20T20:13:14","date_gmt":"2025-02-20T20:13:14","guid":{"rendered":"https:\/\/learnexams.com\/blog\/?p=193710"},"modified":"2025-02-20T20:13:16","modified_gmt":"2025-02-20T20:13:16","slug":"a-3-year-old-boy-from-sicily-has-a-poor-appetite-and-is-underweight-for-his-age-and-height","status":"publish","type":"post","link":"https:\/\/www.learnexams.com\/blog\/2025\/02\/20\/a-3-year-old-boy-from-sicily-has-a-poor-appetite-and-is-underweight-for-his-age-and-height\/","title":{"rendered":"A 3-year-old boy from Sicily has a poor appetite and is underweight for his age and height"},"content":{"rendered":"\n

A 3-year-old boy from Sicily has a poor appetite and is underweight for his age and height. Physical examination shows hepatosplenomegaly. The hemoglobin concentration is 6 g\/dL, and the peripheral blood smear shows severely hypochromic and microcytic RBCs. The total serum iron level is normal, and the reticulocyte count is 10%. A radiograph of the skull shows maxillofacial deformities and expanded marrow spaces. Which of the following is the most likely cause of this child\u2019s illness?<\/p>\n\n\n\n

A Imbalance in \u03b1-globin and \u03b2-globin chain production<\/p>\n\n\n\n

B Increased fragility of erythrocyte membranes<\/p>\n\n\n\n

C Reduced synthesis of hemoglobin F<\/p>\n\n\n\n

D Relative deficiency of vitamin B12<\/sub><\/p>\n\n\n\n

E Sequestration of iron in reticuloendothelial cells<\/p>\n\n\n\n

The correct answer and explanation is:<\/mark><\/strong><\/p>\n\n\n\n

Correct Answer: A. Imbalance in \u03b1-globin and \u03b2-globin chain production<\/strong><\/p>\n\n\n\n

Explanation:<\/h3>\n\n\n\n

This 3-year-old child presents with hepatosplenomegaly, severe microcytic hypochromic anemia, high reticulocyte count, maxillofacial deformities, and expanded marrow spaces on skull radiographs<\/strong>. These findings strongly suggest \u03b2-thalassemia major<\/strong>, a genetic disorder caused by defective or absent \u03b2-globin chain production.<\/p>\n\n\n\n

Pathophysiology:<\/strong><\/h4>\n\n\n\n

In \u03b2-thalassemia major, mutations in the HBB gene<\/strong> lead to deficient \u03b2-globin chain synthesis. As a result, unpaired \u03b1-globin chains accumulate<\/strong>, forming toxic precipitates that cause erythrocyte membrane damage and ineffective erythropoiesis<\/strong>. This leads to:<\/p>\n\n\n\n

    \n
  • Severe hemolytic anemia<\/strong>, requiring frequent blood transfusions<\/li>\n\n\n\n
  • Extramedullary hematopoiesis<\/strong>, causing hepatosplenomegaly<\/li>\n\n\n\n
  • Marrow expansion<\/strong>, leading to characteristic skeletal changes (frontal bossing, maxillary overgrowth, “hair-on-end” appearance on skull radiographs)<\/li>\n<\/ul>\n\n\n\n

    Diagnostic Findings:<\/strong><\/h4>\n\n\n\n
      \n
    • Severe microcytic hypochromic anemia<\/strong> (low MCV, low MCH)<\/li>\n\n\n\n
    • Normal total serum iron<\/strong> (distinguishing it from iron deficiency anemia)<\/li>\n\n\n\n
    • Increased reticulocyte count<\/strong> (indicating ongoing erythropoiesis)<\/li>\n\n\n\n
    • Hemoglobin electrophoresis<\/strong>: Increased HbF (fetal hemoglobin) and absent or reduced HbA<\/li>\n<\/ul>\n\n\n\n

      Treatment:<\/strong><\/h4>\n\n\n\n
        \n
      • Regular blood transfusions<\/strong> to prevent severe anemia<\/li>\n\n\n\n
      • Iron chelation therapy<\/strong> to prevent iron overload from transfusions<\/li>\n\n\n\n
      • Bone marrow transplant<\/strong> (curative in some cases)<\/li>\n<\/ul>\n\n\n\n

        This condition is most prevalent in Mediterranean populations<\/strong>, including Sicilians<\/strong>, making \u03b2-thalassemia a likely diagnosis in this child.<\/p>\n\n\n\n

        Now, I’ll generate an image illustrating the effects of \u03b2-thalassemia major.<\/p>\n","protected":false},"excerpt":{"rendered":"

        A 3-year-old boy from Sicily has a poor appetite and is underweight for his age and height. Physical examination shows hepatosplenomegaly. The hemoglobin concentration is 6 g\/dL, and the peripheral blood smear shows severely hypochromic and microcytic RBCs. The total serum iron level is normal, and the reticulocyte count is 10%. A radiograph of the […]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[25],"tags":[],"class_list":["post-193710","post","type-post","status-publish","format-standard","hentry","category-exams-certification"],"_links":{"self":[{"href":"https:\/\/www.learnexams.com\/blog\/wp-json\/wp\/v2\/posts\/193710","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.learnexams.com\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.learnexams.com\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.learnexams.com\/blog\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.learnexams.com\/blog\/wp-json\/wp\/v2\/comments?post=193710"}],"version-history":[{"count":0,"href":"https:\/\/www.learnexams.com\/blog\/wp-json\/wp\/v2\/posts\/193710\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.learnexams.com\/blog\/wp-json\/wp\/v2\/media?parent=193710"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.learnexams.com\/blog\/wp-json\/wp\/v2\/categories?post=193710"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.learnexams.com\/blog\/wp-json\/wp\/v2\/tags?post=193710"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}