{"id":1914,"date":"2024-12-04T11:25:15","date_gmt":"2024-12-04T11:25:15","guid":{"rendered":"https:\/\/suburban-blog.abymtech.com\/?p=1914"},"modified":"2026-08-28T13:45:20","modified_gmt":"2026-08-28T13:45:20","slug":"hb-reims-a-case-report","status":"publish","type":"post","link":"https:\/\/www.suburbandiagnostics.com\/blog\/hb-reims-a-case-report\/","title":{"rendered":"Hb Reims: A Rare Hemoglobin Variant – A Case Report"},"content":{"rendered":"

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Two brothers \u2013 S1 (44 years) and S2 (39 years) were referred for hemoglobinopathy screening since their father was diagnosed to have \u201cthalassemia\u201d.<\/p>\n

They were born of a non-consanguineous marriage and had no relevant positive history.<\/p>\n

A complete blood count was performed on a Yumizen H2500 (Horiba) and hemoglobin analysis was performed on the Variant II HPLC system (BioRad). The findings are listed below:<\/p>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n
CBC<\/td>\nS1<\/td>\nS2<\/td>\n<\/tr>\n
Hb (g\/dl)<\/td>\n15.4<\/td>\n14.8<\/td>\n<\/tr>\n
RBC (x106\/\u00b5l)<\/td>\n6.12<\/td>\n6.48<\/td>\n<\/tr>\n
MCV (fl)<\/td>\n77.3<\/td>\n71.9<\/td>\n<\/tr>\n
MCH (pg)<\/td>\n25.2<\/td>\n22.8<\/td>\n<\/tr>\n
MCHC (%)<\/td>\n32.6<\/td>\n31.8<\/td>\n<\/tr>\n
RDW (%CV)<\/td>\n15.4<\/td>\n16.8<\/td>\n<\/tr>\n
Microscopy<\/td>\nMildly hypochromic microcytic RBCs<\/td>\nMildly hypochromic microcytic RBCs<\/td>\n<\/tr>\n
Hemoglobin peaks on HPLC<\/td>\nS1<\/td>\nS2<\/td>\n<\/tr>\n
Hb A<\/td>\n66.4%<\/td>\n69.8%<\/td>\n<\/tr>\n
Hb F<\/td>\n0.3%<\/td>\n0.3%<\/td>\n<\/tr>\n
Hb A2<\/td>\n2.7%<\/td>\n4.9%<\/td>\n<\/tr>\n
HbX1 (S window)<\/td>\n21.7% (RT = 4.51 mins)<\/td>\n13.8% (RT = 4.48 mins)<\/td>\n<\/tr>\n
HbX2<\/td>\n0.6% (RT = 4.69 mins)<\/td>\n0.9% (RT = 4.69 mins)<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

Both the brothers, S1 and S2, presented with microcytosis, hypochromasia and thalassemic red cell indices WITHOUT anemia (see above table).<\/p>\n

 <\/p>\n

A sickling test was performed in view of the abnormal Hb peak in HbS window (HbX1, above table). It was NEGATIVE <\/strong><\/b>for both S1 and S2. This suggested that the abnormal Hb peak in the HbS window (HbX1, see above table) in the two brothers was NOT due to the presence of HbS.<\/strong><\/b><\/p>\n

 <\/p>\n

Alpha and beta-globin gene mutation analysis was performed by direct DNA sequencing of the patient\u2019s DNA on the 3730 XL genetic analyser (Applied Biosystems)*. The results were:<\/p>\n